Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Boards > Genetics > Flashcards

Genetics Flashcards

1
Q

Deep creases in palm and sole + developmental delay + mild dysmorphic features (deep set eyes and an everted lower lip) what mutation?

A

Mosiac trisomy 8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Features of tetrasomy 12p?

A

AKA Pallister-Killian Syndrome
Normal blood karyotype.
Coarse facial features and bitemopral sparsity of hair
Severe developmental delay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Karyotype of Klinefelter syndrome

A

47XXY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Patient with Klinefelter syndrome are at increased risk of what diseases

A

Pulmonary disease
Varicose veins
Breast cancer, leukaemia and mediastinal germ cell tumors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

McCune-Albright syndrome is associated with learning difficulty T/F

A

F

Note: it is assoc with cafe-au-lait macules, precocious puberty and polyostotic fibrous dysplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Features of Cowden syndrome?

A

Autosomal dominant
Macrocephaly
Variable developmental delay
Increased risk of breast, thryoid and endometrium tumors and skin lesions (including papillomas and facial trichilemmomas)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Mutation associated with cowden syndrome

A

PTEN gene (AD inheritance)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

NSD1 gene or 5q35 deletion, what genetic disoder?

A

Soto syndomre

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Soto syndrome is associated with what abnormalities?

A

Macrocephaly + large feet and hands + prominent forehead, down slanting palpebral fissues, prominent jaw and high and narrow palate
Seizures
Mild ventricular dilatation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Soto syndrome is mostly due to de novo gene mutations T/F

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

GPC 3 gene mutation, what syndrome?

A

Simpson-Golab - Behmel syndome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Simpson-Golab-Behmel syndrome is X-linked recessive T/F

A

True

Note: carrier females can have subtle facial manifestations including a large mouth, pointed chin or coccygeal appendage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the most common form of inherited congenital deafness?

A

Pendred’s syndrome

Note: AR inheritence; presents with simple goitre and mild hypothyroidism; deafness is sensorineural

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Clinical features of glutaric aciduria type 1

A 
Choreiform and dystonic movements
Normal eye exam
Macrocephaly 
Developmental delay
Often presents after a minor illness as the body is working at a higher rate of metabolism which unmasks the deficiency
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Canavan’s disease eye findings

A

Optic atrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Alexander disease is associated with hypotonia T/F

A

F - it is assoc with stiff limbs

Note: rare demyelinating leukodystrophy, presents around 2 yrs old with progressive macrocephaly, seizures, stiff limbs and ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Eye findings in mucopolysaccharidosis?

A 
Corneal clouding 
(except Hunter syndrome)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Eye findings in GM2 gangliosidosis?

A

Cherry red spot

Tay–Sachs and Sandhoff disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What may be seen on a CT brain of a patient with glutaric aciduria type 1?

A

Subdural effusion

Note: subdural effusion is also a common complication of streptococcal meningitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Are carnitine levels high or low in carnitine transporter defect?

A

Very low - as carnitine is not taken up by the cells and hence it is lost in the urine.
Hence diagnosis is confirmed by high fractional excretion of carnitine
Note: also associated with cardiomegaly; carnitine is essential for long chain FA oxidation and FA are the preferred fuel source for the heart

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

In antenatal screening T21 is a cause of elevated alpha fetoprotein T/F

A

F - T21 is a cause of REDUCED AFP

Causes of elevated AFP - liver necrosis, anencephaly, spina bifida, sacrococcygeal teratoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

How does arginase deficiency commonly present?

Lab abnormality?

A

Spastic diplegia and subsequently seizures, ataxia and dystonia
Increased arginine and ammonia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Male with short stature, webbed neck, hypertelorism, downslanting palpebral issues has what syndrome

A

Noonan syndrome (“male Turner syndrome”)

Other features: skeletal defects, cryptorchidism, bleeding diathesis, card abnormality

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is the most common cardiac abnormality with Noonan syndrome?

A

Pulmonary stenosis and hypertrophic cardiomyopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is the cardiac abnormality in Turner syndrome

A

Coarctation of aorta and bicuspid aortic valve

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Cardiac abnormality in Alagille syndome

A

Peripheral pulmonary artery stenosis (up to 90%)

Tetrology of fallot

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Cardiac abnormality in William syndrome

A

Supravalve aortic stenosis

Note: also associated with renal artery stenosis, elfin facies and being overly friendly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is the most common form of inherted mental retardation affecting boys?

A

Fragile X syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Female carries of Fragile X syndrome are usually of normal intelligence but may have what?

A

Premature menopause

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is the gene involved in fragile X

A

FMR1 gene on x chr; caused by expansion triplet repeats

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Mutation in HERG is assoc with what cardiac abnormality

A

Long QT syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Deletion of 22q11.2 is common in may congenital cardiac diseases including DiGeorge syndrome. What other ones

A

Tet of Fallot
Common arterial trunk
Familial VSD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Cystinosis causes what acid base abnormality?

A

Hyperchloraemic acidosis

Also rickets
It is AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Inheritance of fabry’s disease and broad category of pathology

A

X linked recessive

Lysosomal storage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Fabry’s disease what cardiac pathology

A

Mitral valve prolapse

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Clinical features of Fabry disease

A

Neuro: neuropathic pain; decreased ability to sweat; cloudiness of eye, hearing loss
Card: MVP
Derm: dark red spots on the skin called angiokeratomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Characteristic lab abnormality in MCADD

A

Hypoketotic hypoglycaemia

Note: this is a fatty acid oxidation defect –> not able to make ketones; mgmt avoid prolonged fasting and glucose supplementation during illness
Other presentations: lethargy, seizure, coma, acute hepatic failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

MECP2 mutation, what disease?

A

Rett Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

SNRPN mutation, what disease?

A

Prader Willi

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

UBE3A mutation, what disease?

A

Angelman Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

In a pt with pendred syndrome what would you expect to see on imaging of middle/internal ear?

A

Bilateral dilation of vestibular aquaducts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Inheritance of Marfan’s syndrome

A

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Incidence of PKU

A

1 in 10,000 live births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Abnormality on chr11p15 is assoc with what syndrome?

A

Beckwith Wiedemann syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Beckwith Wiedemann is assoc with risk of what malignancy?

A 
Wilms tumor (nephroblastoma)
Hepatoblastoma

Note: surveillance
AFP every 2-3 weeks until 4 yrs old + abdo USS every 3 months until age of 8

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What is Williams syndrome also known as?

A

Idiopathic infantile hypercalcaemia

Note: mutation on chr 7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is the aetiology of Smith-Lemli-Opitz syndrome

A

Inability to break down cholesterol due to def in cholesterol reductase. This lead to a low cholesterol level, tx is with a high cholesterol diet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Maternal uniparental disomy of chr 15 what syndrome?

A

Prader Wili

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Paternal uniparental disomy of chr 15 what syndrome?

A

Angelman’s syndrome

Both copys inherited from father

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

HLA A3 is associated with what disease?

A

Haemochromotosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

HLA Cw6 is associated with what disease?

A

Psoriasis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

HLA B5 is associated with what disease?

A

Bechet’s syndrome, polycystic kidney disease, ulcerative colitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

HLA DR2 is associated with what disease?

A

MS and goodpastures syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

HLA DR3 is associated with what disease?

A

Addison’s disease, Sjogren disease , Graves disease, diabetes mellitus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

HLA DR4 is associated with what disease?

A

Rheumatoid arthritis and diabetes mellitus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Phenylketonuria leads to low phenylalanine serum T/F

A

F

Due to a def of phenylalanine hydroxylase, hence unable to convert phenylalanine to tyrosine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Patients with phenylketonuria have fair skin T/F

A

T “dilute pigmentation” due to inadequate melanisation

Other features - low IQ, poor head growth, seizures and eczema-like rash.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

MSK abnormalities with Alagille syndrome

A

Most common: butterfly vertebrae

Less common: Radio-ulnar synostosis and short phalanges

Note: also cholestasis, congenital heart disease (commonly pulmonary valve), anterior segment abnormalities (mainly posterior embryotoxon)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Presentation of ornithine aminotransferase deficiency?

A

Worsening myopia and night vision

Affects the retina and the choroid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Most males foetuses with incontinentia pigmenti will result in miscarriage. T/F

A

T

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

NLG3 is associated with what?

A

Non syndromic autism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Triple X syndrome is associated with problems of gonadal determination and sexual differentiation T/F

A

False - this is due to lyonisation/inactivation of the extra X. Hence phenotypically normal.

Note: features are delays in language, gross motor and auditory processing; learning difficulty, EEG abnormalities. Can have premature ovarian failure but normal fertility is usually present

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

In a pt with Down syndrome and other family members with DS such as first cousins what is the likely cause?

A

Unbalanced Robertsonian Translocation

Note: this is known as translocation down syndrome, as opposed to T21. A balanced translocation will not result in down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

What is the inheritance of Hunter syndrome?

A

X linked recessive

Note: most other mucopolysaccharidoses are autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What is the inheritance of hereditary spherocytosis

A

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

What is the inheritance of Vit D resistant rickets?

A

X linked dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Galastosaemia can lead to precocious puberty T/F

A

F - it can lead to delayed puberty in females due to ovaries not producing enough oestrogen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

There is an increasing incidence of Turners syndrome in with increasing maternal age T/F

69
Q

Anosmia, early onset retinitis pigmentosa (night blindness), chronic axatia, variable neuropathy, deafness and pruritus what disease?

A

Refsum’s disease (a peroxisomal disorder)

70
Q

What does VACTERL stand for?

A 
Vertebral
Anorectal
Cardiac
Tracheo-esophageal
Renal/radial
Limb

Note: need at have at least 3 features with no other suggestion of alternative diagnosis

71
Q

Characteristic “aged” appearance with deep set eyes and significant ocular manifestations (cataracts, optic atrophy and pigmentary retinopathy) what syndrome?

A

Cockayne syndrome

Note: also have significant post natal growth failure and progressive neuro dysfunction.

72
Q

Triangular face with blue sclera, small body but normal head circumference, 5th finger clinodactyly and cafe au lait spots and increased sweating. What syndrome

A

Russell silver syndrome

73
Q

Features of Holt Oram syndrome?

A

Upper limb abnormalities and congenital heart disease (mainly ASD and VSD)

Main Ddx TAR syndrome but no cardiac issues in TAR

74
Q

What are the 3 cardinal features of Bloom syndrome?

A

Photosensitivity
Telangiectatic erythema of face
Stunted growth

Note: can also have recurrent infections and predisposition to malignancy and dysmorphic features

75
Q

What is the pathology of Bloom syndrome?

A

AR inheritance and caused by a DNA repair defect

76
Q

DDx of hypoketotic hypoglycaemia

A
  • Hyperinsulinism
  • Fat oxidation defects such as MCADD
  • Liver failure (site of fat oxidation)
  • Some mitochondrial disorders
77
Q

Autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. What disease?

A

Chediak Higashi syndrome

78
Q

Axatia, seizures, muscle weakness, recurrent infections and albinism what disease?

A

Chediak Higashi syndrome

Note: also have ocular symptoms, secondary to oculocutaneous albinism include nystagmus, photophobia and increased red reflex

79
Q

Self mutilation what genetic disorder?

A

Lesch Nyhan

80
Q

What is the most specific diagnostic test for galactosaemia?

A

Reduced or absent GALT enzyme (galactose-1-phosphate uridyltransferase)

81
Q

The presence of succinylacetone in urine is pathognomonic of what?

A

Classical/type 1 tyrosinaemia

Note: leads to progressive liver failure, neuro disease and renal tubular acidosis

82
Q

When does hereditary fructose intolerance typically present? What is it caused by?

A

Does not present until infant starts weaning onto foods from breastmilk/formula

Cause: deficiency of aldolase B

Note: formula used to be sweetened and so it used to present earlier. Leads to a build up of fructose 1 phosphate

83
Q

Clinical and exam features of hereditary fructose intolerance?

A

Infants will vomit and prove difficult to wean

Hepatomegaly and deteriorating liver function/failure, marked acidosis and hypoglycaemia

84
Q

What is the inheritance of Rhett syndrome?

A

Sporadic in 99% of cases

Although it is on the X Chr and fxns in a dominant manner –> it can be maternally inherited in the few cases where familial cases have occurred. It is lethal in males so fathers cannot be carriers

85
Q

Mutations in the gene FGFR3 what disease?

A

Achondroplasia

Note: 2 specific mutations found to cause over 98% of this disease

86
Q

Features of Zellweger syndrome in an infant?

A

Hypotonia, apnea, seizures and craniofacial abnormalities

87
Q

Anosmia, obesity and hypothalamic hypogonadism what pathology and inheritance?

A

Kallmann syndrome
X linked recessive

Note: mutation of the ANOS1 gene at Xp22.3 resulting in a migration defect

88
Q

What is the mainstay of treatment of Kallmann syndrome?

A

HCG or testosterone

89
Q

What is the typical inheritance of William syndrome?

A

Typically sporadic

90
Q

LCHAD (long chain hydroxy acyl-CoA dehydrogenase) deficiency is associated with what eye abnormality?

A

Pigmentary retinopathy

91
Q

What is the inheritance of SMA?

A

Autosomal recessive

92
Q

Mutation in KCNQ1 is associated with that syndrome?

A

Long QT syndrome

93
Q

The mutation in Williams syndrome is on what Chr?

A

Chr 7 (del)

94
Q

Typical features of Niemann Pick disease?

A

Ataxia and developmental regression
Hepatomegaly
Cherry red spots on fundoscopy

95
Q

How does biotinidase deficiency typically present in infancy?

A

Progressive neuro symptoms esp hearing and vision

Rash with or with out hair loss

96
Q

What is Lesch-Nyhan commonly misdiagnosed as?

A

Cerebral palsy - due to hypotonia and developmental delay which later evolves in spasticity and a choreiform movement disorder. Later the aggression towards themselves and others provided a clue to diagnosis

97
Q

Deficiency of hypoxanthine guanine phosphoribosyltransferase what disease? What lab abnormality?

A

Lesch-Nyhan

Elevated uric acid but sometimes it is at the upper limit of normal as it is being excreted in the urine

98
Q

What does VACTERL association stand for?

A 
Vertebral anomalies
Anal atresia
Cardiac defects
Tracheo- oesophageal fistula and/or Esophageal atresia
Renal anomalies
Limb (radial) anomalies
99
Q

Rocker bottom feet, what pathology and other clinical features?

A

T18/Edward syndrome - cardiac defects ASD, VSD or PDA; multiple large choroid plexus cysts, overlapping digits

100
Q

Features of CHARGE syndrome

A 
Coloboma
Heart defects
Atresia choanae 
(also known as choanal atresia)
Retardation of growth
Genital abnormalities
Ear abnormalities

NB absent and/or hypo plastic semi-circular canals on internal ear imaging in 95% - appearance of the external ear is often characteristic too with a rather triangular concha

101
Q

What is the inheritance of Tay Sachs

A

Autosomal recessive

102
Q

Hereditary haemochromatosis is on what chromosome?

A

Chr 6 (HFE gene)

103
Q

Difference in inheritance of mtDNA point mutations vs mtDNA large segment duplications or deletions?

A

mtDNA point mutations - inherited from mother, only female can pass it on but males or females can be effected
mtDNA large segment - tend to be sporadic mutations

104
Q

Edward syndrome which trisomy?

105
Q

Patau syndrome which trisomy?

106
Q

Cutis aplasia is a feature of Edward or Patau syndrome?

A

Patau (13)

107
Q

Typical facial features of Simpson Golabi Behmel syndrome

A

Macrocephaly coarse facial features and down slanting palpebral fissues in males

Female carriers can have more subtle features

108
Q

Vertical supranuclear gaze palsy is a typical finding in what genetic disease? What other ophthalmic finding may be present?

A

Niemann Pick disease type C
Cherry red spot

It can manifest as uncertainty walking down stairs.

109
Q

If a parent has isochromosome 21 what is the risk of the child having trisomy 21?

110
Q

Elevated urinary glycosaminoglycans in what pathology

A

Mucopolysaccharidoses

111
Q

Lab to investigate for Refsum’s disease?

A

Plasma phytanic acid

Note: it is a fatty acid oxidation disorder

112
Q

Laurence Moon Biedl syndrome is associated with failure to thrive T/F

A

F - it is associated with obesity

113
Q

Laurence Moon Biedl syndrome is associated with obesity T/F

114
Q

A patient with obesity, hypothalamus abnormalities (central DI and hypogonadism) and night blindness/retinitis pigmentosa

A

Laurence Moon Biedl syndrome

Note: can also have polydactyl

115
Q

Typical features of Beckwith Wiedemann

A

Macrosomia and macroglossia, asymmetric limb growth , abdominal wall defects and increased malignancy risk ( Wilms > Hepatoblastoma)

116
Q

Typical facies of Lysch Nyhan?

A

None, these patients are not dysmorphic

117
Q

What are 2 features on history that can help differentiate Noonan syndrome from Turner?

A

Noonan : hx of poor feeding as infant and bleeding tendency

118
Q

Investigation to diagnose fanconi’s anaemia?

A

Chromosome breakage studies

diepoxybutane (DEB) or mitomycin C assay to detect increased chromosome fragility

119
Q

A non dysmorphic neonate with normal acid base balance who was very active in utero develops neonatal encephalopathy with myclonic jerks and hiccups. Diagnosis?

A

Non ketotic hyperglycinaemia

Note: diagnosis is made by elevated glycine in plasma or CSF. Myoclonic jerks may not be prominent but EEG will show a burst suppression appearance. The increased fetal movements are seizure

120
Q

A child with pulmonary stenosis, dysmorphic features and areas of skin thickening with hyperkeratosis. What pathology?

A

Cardio facio cutaneous syndrome

121
Q

What type of immune deficiency is Kostmann syndrome?

A

A severe congenital neutropenia

122
Q

Mutation in fibrillin 1 gene what pathology?

A

Marfan’s

123
Q

What is the management of Jeune syndrome?

A

Usually require intubation and ventilation at birth until they grow or have insertion of cartilage in their sternum.

AKA asphyxiating thoracic dystrophy

124
Q

Features of Jeune syndrome

A

AKA asphyxiating thoracic dystrophy

Lung hypoplasia, poor cartilage development, renal abnormalities such as cystic kidneys

125
Q

1st line genetic testing for patient with global developmental delay with no obvious aetiology for history or exam?

126
Q

Lab abnormalities in Leigh syndrome

A

Elevated lactate, pyruvate and alanine

127
Q

Ambigious genitalia, nephropathy and bilateral Wilms tumors what syndrome?

A

Drash syndrome

128
Q

Acronym WAGR

A

Wilms tumor
Aniridia
GU malformations (Note these only seen in males)
Reduced intellectual ability

129
Q

Genetic abnormality in WAGR

A

chr deletion of WT1 gene, located on 11p13

130
Q

What genetic syndromes have an increased risk of Wilms tumor?

A

WAGR
Denys-drash
Beckwith-Wiedemann

131
Q

Individuals with Klinefelter and Marfan syndrome usually have learning disabilities and gynaecomastia T/F

A

F

These features are present with Klinefelter but not Marfan

132
Q

Which is the most common chromosomal abnormality associated with male hypogonadism and infertility?

A

Klinefelter (47XXY)

Note: tx is with testosterone

133
Q

When does Lesch Nyhan usually present?

A

Around 3-4 months with developmental delays and neurological signs.

Normal at birth

Other features: failure to thrive, emesis, self multilation, kidney stones and gout

134
Q

Alagille syndrome, gene is on what chr?

135
Q

Cholestasis, cardiac abnormalities and butterfly vertebrae, what syndrome? Associated with what on liver biopsy?

A

Alagille syndrome

Liver bx: reduced number of bile ducts, progressive destruction with age

136
Q

Where is the most common location of Caffey disease?

A

Mandible

AKA infantile cortical hyperostosis

137
Q

Presentation of Caffey disease?

A

Usually < 6 months age
Irritable, fever and soft tissue swelling w/o associated warmth or erythema
Elevated ESR, WBC and alk phos

Note: tx indomethacin or prednisone

138
Q

Absent lower eyelashes in what syndrome?

A

Treacher Collins

Note: also have conductive hearing loss; mid face hypoplasia, cleft palate and micrognathia

139
Q

New-borns with galactosaemia are at increased risk for sepsis caused by what organism?

140
Q

Cornelia de Lange syndrome is associated with hirsutism T/F

A

T - including confluent eyebrows and long eyelashes

Also limb abnormalities and behavioural problems (aggression and self injury)

141
Q

Dysostosis multiplex is associated with what syndrome?

A

Hurler syndrome

It is the name for the typical cartilage and bony defects

142
Q

Low set hairline may be seen in which conditions?

A

Cornelia de Lange
Noonan
Turner

143
Q

Classic lab features of a urea cycle disorder

A

Resp alkalosis and hyperammonaemia

144
Q

What lab to differentiate between OTC (ornithine transcarbamylase def) and CPS (carbamoyl phosphate synthetase def)?

A

Urine orotic acid

Normal/low in CPS
High in OTC

145
Q

Cystathionine beta synthase deficiency leads to what disorder?

A

Homocystinuria

146
Q

Branched chain ketoacid dehydrogenase complex deficiency leads to what?

A

Maple syrup urine diease

147
Q

Tay Sachs disease is more common in what populations?

A

Eastern European Jewish
Cajun
French Canadian

148
Q

Decreased levels of hexosaminidase A what pathology? Early sign?

A

Tay Sachs
Exaggerated startle reflex (unlike Morro this does not diminish with repeated stimuli)

Note: autosomal recessive, cherry red spot, motor skills are progressively lost. Axial hypotonia, extremity hypertonia and hyperreflexia

149
Q

Smooth, doughy skin and poor wound healing is associated with what genetic disorder?

A

Ehlers Danlos

150
Q

What cardiac defects are associated with Ehlers Danlos

A

MVP

Aortic root dilation/dissection

151
Q

Malignancy is a likely possible complication of TAR

A

F - intra cranial haemorrhage due to thrombocytopenia

152
Q

Tuberous sclerosis is associated with what cardiac abnormality?

A

Cardiac rhabdomyoma

Note: they usually soon regression by 6 yrs old; not tx is indicated if asymptomatic

153
Q

Nearly 20% of patients with Pierre Robin sequence have what syndrome?

A

Stickler syndrome

Note: stickler is also associated with ophtho, auditory and articular abnormalities

154
Q

Individuals with homocysteinuria are at increased risk of thromboembolic events T/F

155
Q

Test to investigate for suspected PKU?

A

Plasma amino acids (assess phenylalanine levels)

Note: should also be picked up on newborn screen

156
Q

Nail-patellar syndrome is associated with hypoplasia/absent patellar, dystrophic nails and what else?

A 
Renal abnormality (microscopic haematuria and/or mild proteinuria)
Dysplasia of elbows and present of iliac horns

Note: renal biopsy EM - GBM looks “moth eaten”; light micro and immunofluoresce is normal

157
Q

Kallmann syndrome is associated with joint laxity T/F

158
Q

Kallmann syndrome is associated with cleft lip/palate T/F

A

T - other features hypogonadotropic hypogonadism with anosmia; congenital heart disease and renal agenesis

159
Q

Pyridoxine can be used in the treatment of what metabolic disorder?

A

Homocysteinuria

Note: addition of folic acid and vit B12 is indicated in those who do not initially improve as folate depletion may cause the patient to be unresponsive to pyridoxine (Vit B6)

160
Q

Turner syndrome is associated with an increased celiac disease and diabetes mellitus T/F

A

T

Note: also associate with autoimmune thyroiditis

161
Q

Detectable L-alloisoleucine is diagnostic for what?

A

Maple syrup urine disease

Note: treatment is branched chain amino acid restriction

162
Q

Myoclonic seizures, splenomegaly, anaemia, thrombocytopenia and Erlenmyer flask on femur xray. What pathology?

163
Q

Foam cell, Niemann Pick or Tay Sachs?

A

Niemann Pick

164
Q

Onion skin lysosomes, Niemann Pick or Tay Sachs?

165
Q

Hepatospenomegally, Niemann Pick or Tay Sachs?

A

Niemann Pick

166
Q

Treatment of MCAD deficiency?

A

Frequent carb feeds and carnitine

167
Q

Features of PHACES and basic screening?

A

Posterior fossa mass
Haemangiomas (large segmental unilateral or bilateral of faces)
Arterial anomalies (mainly head and neck)
Cardiac
Eye abnormalities (optic atrophy, cataracts, Horner syndrome)
Sternal clefting/supraumbilical abdo rafe

Screening: MRI/MRA head and neck; echocardiogram and optho exam

168
Q

Communicating hydrocephalus
Coarse facial features, prominent forehead, hypertelorism
Hepatosplenomegally
Generalised joint stiffness

A

Mucopolysaccharidosis

Note: due to accumulation of GAGs. Hence can also have cardiac hypertrophy, obstructive airway disease and pulmonary hypertension

169
Q

White forelock
Premature greying
Telecanthus
Iris heterochromia

A

Waardenburg syndrome

Note: AD inheritance; also hearing loss and cutaneous depigmentation

Boards (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions