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Genetics Flashcards

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1
Q

McCune Albright Triad

A
  • TRIAD of polyostotic fibrous dysplasia, hyperpigmented macules and poly endocrinopathy
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2
Q

What are you at risk for in mccune albright

A
  • At risk for adrenocortical tumors
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3
Q

What type of precocious puberty in mccune albright

A
  • Gonadotropin independent precocious puberty
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4
Q

Gene for mccune albright

A

GNAS

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5
Q

How is Rett Syndrome inherited

A

X-linked disease

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6
Q

Mutations for Rett Syndrome

A
  • Caused by mutations in MECP2 gene on x chromosome
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7
Q

Hallmark of Rett

A

Hallmark is repetitive hand wringing motions and a loss of purposeful and spontaneous movements of the hand, may not appear until age 2-3

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8
Q

Cause of death in Rett syndrome

A

Arrhythmias

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9
Q

How is Sturge Weber inherited

A

Sporadic

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10
Q

Gene for Sturge Weber

A

DNAQ gene

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11
Q

Findings in Sturge Weber

A
  • Port wine stain tends to be unilateral and ipsilateral to the brain involvements
    • Bupthalmos and glaucoma the ipsilateral eye are common complications
    • Seizures occurring in 75-80% of patients and in over 90% of those with bilateral brain involvement
      Early onset of seizures will likely occur during the first year of life but rare during 1 st month of life
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12
Q

What side are sturge weber seizures on

A
  • Typically focal clonic and contralateral to the side of the facial capillary malformation
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13
Q

Syndromes with port wine stain

A

Sturge wbere, klippel trenaunay, parkes wber, proteus, BWS, von hippel lindau

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14
Q

Types of Sturge Weber

A

○ Type 1- both facial and leptomeningeal angiomas present, may have glaucoma
○ Type 2- Facial angioma alone (no CNS involvement) may have glaucoma
Type 3 isolated leptomeningeal angiomas, usually no glaucoma

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15
Q

Lesch Nyhan inhertiance

A

x-linked recessive

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16
Q

Lesch Nyhan clinical manifestation

A

Clinical manifestations include hyperuricemia, ID, dystonic movement disorder that may be accompanied by choreoathetosis and spasticity, dysarthric speech and compulsive biting usually beginning with eruption of teeth

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17
Q

Incontienentia Pigmenti inheritance

A
  • X-linked, males usually die, so mostly females
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18
Q

CBC finding in Incontinentia pigmenti

A

Eosinophilia

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19
Q

Stages of incontinentia pigmenti

A
  • 1st stage resolved by 4mo of life
    • 2nd stage- blisters on limbs dry and resolve, become dry and hyperkeratotic forming verrucous plaques
    • 3rd pigmentary stage is hallmark, develops over weeks to months, 1st few months of life get hyperpigmentation on the trunk more than limbs in macular whorls, reticulated patches, flecks and linear streaks
      ○ Lesions stay until about age 16
      ○ Classically in axilla and groin
      4th stage is atretic - hairless, anhidrotic hypopigmented patches
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20
Q

Denys Drash presnetation

A

Patients present with early nephrotic syndrome, progressive renal insufficiency, ambiguous genitalia and wilms tumors

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21
Q

Frederich ataxia inheritance

A
  • Autosomal recessive condition of spinocerebellar tracts, dorsal columns
    GAA trinucelotide repeat
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22
Q

Type of disorder x-linked adrenoleykodystorphy

A

peroxismal disorder

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23
Q

Presnetation x-linked leukodystorphy

A

○ Presents between 4-8
○ Initial manifestations are ADHD and worsening school performance
○ Auditory discrimination is often impaired
○ Disturbances of vision, ataxia, poor handwriting, seizures and strabismus
○ Progresses rapidly
Vegetative state by 2 years

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24
Q

What do you need to check for in boys with addisons

A

very long chain fatty acids for x-linked leukodystorphy

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25
Q

Ataxia telangectasia inheritance

A

AR

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26
Q

First trimester screening false positive rate in T21

A

5%

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27
Q

Name genetic conditions with cafe au lait spots

A

NF1, NF2, Fanconi anemia, Russel Silver Syndrome, Noonan Syndrome, Blom suyndrome, TS, McCune Albright

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28
Q

5 craniosynostosis syndromes

A

Apert, Pfeffer, Crouzon, Saethre Chotzen, Muenke

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29
Q

Most common suture for craniosynostosis

A

sagittal suture

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30
Q

associated problems with craniosynostosis

A

coanal atresia, hearing loss, developmental delay

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31
Q

3 syndromes requiring PSG before 1 year

A

CCHV, achondroplasia, prader willi

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32
Q

Cocaine teratogen affects

A

prematurity, low birthweight,limb deficiency, intestinal atresia, ABRUPTION for HTN

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33
Q

Alcohol teratogen

A

growth deficiency, delay, microcephaly, characteristic facies, cardiac defects (MOST COMMON ASD/VSD)

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34
Q

Warfrain teratgoen

A

optic nerve atrophy, CNS problems, stippled epiphyses

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35
Q

Retinoids teratogens

A

blindness, deafness, microtia, CHD, corticla and cerebellar defects

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36
Q

Phenytoin teratogen

A

cases fetal hydrantoin syndrome
microcephaly, celft lip, MR, hypoplastic nails, hypoplastic distal phalanges

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37
Q

maternal diabetes teratogen

A

caudal regression (sacral agenesisis esp in type 1/2 poor control), arthrogryposis, duplex ureter, NTD, small left colon syndrome, hypertrophic cardiomyopathy (resolves over time)

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38
Q

facies in FAS

A

smooth philtrum, thin vermillion border, small palpebral fissures

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39
Q

PKU teratogen effects

A

IUGR, microcephaly, congenital hart disease, hyperactivity
risk ue to mothers metabolic control and is independent of wehther the fetus has PKU

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40
Q

syndromes with risk of hirschsprungs disease-

A

T21, CCHV, Wardenburg
SLO

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41
Q

FBN1 gene

A

marfan

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42
Q

FRAX gene

A

Fragile X

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43
Q

TSC1 and TSC2

A

TS

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44
Q

CFTR gene

A

CF

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45
Q

DMD gene

A

Ducehnne

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46
Q

Trisomy 13

A

1/1200 live births
Deafness, seizures, apenic spells, holoprosencephaly, hypotonia, low ID, microcephaly, micropthalmia, coloboma, low set ears, polydactyly, club foot, VSD, PDS, ASD, dextroposition, cryptorchidism, omphalocele, polycystic kidney, hydronephrosis, horseshoe kidney
Cutis aplasia

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47
Q

what syndrome do you get cutis aplasia in

A

T13

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48
Q

T18

A

IUGR, hypertonia, severe ID, micropthalmia, prominent occiput, small mouth, micrognathia, overlapping fingers, rockerbottom feet, VSD and PDA most common, meckels

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49
Q

Risk for passing on T21 if mother vs father have trnaslocation

A

10-15% for mother, only 2% if father carrier

50
Q

How many patients wiht T21 have acrdiac involvement

A

50%

51
Q

What to do at birth in T21

A

eye exam, hearing test, echo, TSH and CBC

52
Q

What to do T21 1-5 years

A

watch for AOM, eye exam annually, TSH annually, x-rays for subluxation if symptomatic

53
Q

When should you have OSG in T21

A

By age 4

54
Q

Surveillance Turner syndrmoe

A

renal ultrasound, echo, yearly TSH, optho, developmental follow up and metabolic screen in adolescent years

55
Q

CATCH 22

A

DiGeorge (cardiac, abnormal facies, thymus hypoplasia, cleft palette, hypocalcemia)

56
Q

Digeorge clinical ft

A

higher risk of schizophrenia, speech delay, normal to moderate ID, conotuncal defects (interrupted aortic arch, truncus), TOF, ASD, coarc, hyopcalcemia, recurrent sinopumonary infections due to SCID

57
Q

Williams Syndrome gene

A

Defect in elastin gene

58
Q

Clinical fts williams syndrome

A

elfin facies, broad forehead, flat nasal bridge, short nose, full lips, wide mouth
impaired cognition, Cocktail party personality, SNHL, strabismus, supravalvular aortic stenosis, pulmonary rteri stenosis, renal artery stenosis, hypertension, hypercalcemia, short stature, subclinical hypothyroidism, joint laxity, prolapse

59
Q

Starburst eye pattern

A

williams syndrome

60
Q

WAGR syndrome gene

A

11p13

61
Q

WAGR syndrome

A

Wilms tumor, aniridia, GU abnormalitis, retardation

62
Q

4pdeletion syndrome

A

WolfHirschorn syndrome

63
Q

WolfHirschorn syndrome

A

greek warrrior helmet face, hypertelrosimm high arached eyebrows, epicanthal folds, downturned corners of mouth

64
Q

Wolf Hirschon clinical ft

A

microcephal, ID, CHD, resp infesction due to recurrent aspiration, feeding difficulties arecommon

65
Q

Achondroplasia gene

A

FGFR3 gain of function

66
Q

achondroplasia mode of inheritance

A

AD

67
Q

Achondroplasia clinical ft

A

rhizomelic (long bone shortening tha affects proximal more than lower), macrocephaly, hyposcoliosis, lumbar lordosis, saddle nose deformity, midface hypoplasia, bow legs
cergical medullary compression so NEED MRI by 1 year , recurrent OM, obesity, normal intelligence nad life span

68
Q

Marfans inheritance

A

AD

69
Q

MArfans clinical ft

A

scoliosis, tall thin body, arachnodactyly, pectus excavatum/carinatumpes planus, joint laxity, normal cognition, mala hypoplasia, ectopia lentis (upward and temporally), high arached palte, pneumothroax risk, aortic root dilation, mitral valve prolapse, protrusio acetabuli

70
Q

ectopia lentis

A

marfan

71
Q

Homocystinuria

A

marfanoid body habitus, severe myopia/ectopia lentis altough lens goes DOWNWARD rather than UPWARD, ID, thromobtic events, stroke

72
Q

Trinucleotide repeat disorders

A

Huntington, myotonic dystrophy and fragile X sundrome

73
Q

Ataxia telangectasia inheritance

A

autosomal recessive condition

74
Q

when does ataxia start in ataxia telangectasia

A

2, loss of ambulation by adolesnce

75
Q

Prader willi inheritance

A

prader misses pap
lack of expression of PATERNALLY inherited chromosome 15q11

76
Q

syndromes assoc with chromsome 15q11

A

prader willi, angleman

77
Q

most common form of syndromci obesity

A

prader willi

78
Q

clinical ft prader willi

A
  • Small hands and feet, almond shaped eyes, narrowed bifrontal diameter, thin upper lip
    Hypotonia, poor suck
    • Neonatal hypotonia, GDD, ID, sleep disturbance, 25% epilepsy, tantrums, skin and rectal picking, OCD
    • OSA
    • Feeding problems in infancy the weight gain after
    • Hypogonadism, cryptorchidism
    • GH deficiency, obesity
      Scoliosis
79
Q

criteria for macules in NF1

A

NF1= 6 or more spots >5mm in diameter in prepubertal patients or 6 or more >15mm in diameter in post-pubertal patients

80
Q

Russel Silver clinical ft

A
  • Severe IUGR and postnatal growth restriction
    • Mild DD in 1/3
    • Large head in relation to body size
    • Prominent forehead, triangular face, downturned corners of mouth
    • Sleep disordered breathin
    • Majority of infants have feeding difficulties, low birthweight
      Short stature
81
Q

Wardenburg mutation

A

PAX-3

82
Q

Wardenburg inheritance

A

AD

83
Q

Wardenburg clinical ft

A
  • White forelock, heterchromia
    • Wide nasal bridge, short palpebral fissues
      SNHL, Hirschsprung disease
84
Q

intracranial tumors in NF

A

Aside from optic gliomas, astrocytoma of the cerebrum, brainstem and cerebellum are the most common intracranial tumors

85
Q

Diagnosis of NF1 criteria

A

2 or more of the following:

§ 6 or more café au lait macules >5mm in prepubertal and >15mm in post-pubertal. CALMs are hallmark of NF and are present in almost 100% of patients. They are present at birth but increased in size and number and pigmentation, esp during first few years of life
§ Axillary or inguinal freckling consistently of multiple hyperpigmented areas 2-3mm in diameter. Appears between 3-5 years of age
§ Two or more iris Lisch nodules which are hamartomas located within the iris and best identified on slit lamp examination. Prevalence increases with age
§ Two or more neurofibromas or one plexiform fibroma
§ Distinctive osseous lesions such as sphenoid dysphasia or cortical thinning of long bones
§ Optic gliomas are the most frequently observed CNS tumor in NF1, need annual optho examinations
A first degree relative with NF12

86
Q

What malignancy are you at risk for in NF1

A

JMML

87
Q

Lisch nodules

A

NF1- iris hamartomas

88
Q

Do you do routine imaging in NF1

A

No

89
Q

Tuberous sclerosis inheritance

A

AD

90
Q

TS genes

A

TSC1 and TSC2 encoding hamartin and tuberin

91
Q

TS clinical ft

A
  • CNS: Seizures, infantile spasms, 50% have some ID, ASD, ADHD, LD, Anxiety
    • H/N: retinal lesions
    • Renal: angiomyolipoma
      Cardiac: rhabdomyoma
92
Q

What condition do you get rhabdomyoma in

A

TS

93
Q

Beckwith Weidmen chromosome

A

uniparentla disome for chromosome 11p15

94
Q

Clinical ft Beckwith

A
  • Omphalocele, umbilical hernia, diastasis recti
    • Macroglossia
    • Macrosomia
    • Hemihyperplasia
    • Anterior linear ear lobe creases/posterior helical ear pits
    • Visceromegaly –> liver, spleen, kidneys, adrenal gland, pancreas
    • Facial nevus simplex, midface hypoplasia
    • Cardiomyopathy (rare)
    • Nephromegaly, nephrocalcinosis, medullary sponge kidney
      Neonatal hypoglycemia, hypothyroidism
95
Q

Risk for tumors in Beckwith

A

7.5%

96
Q

Screening in Beckwith

A
  • AFP- every 3 months until 4 years old for hepatoblastoma
    AUS every 3 months until age 8
97
Q

Noonan inheritance

A

AD

98
Q

Noonan ft

A
  • Short stature, triangular face
    • Hypertelorism, down slanting palpebral fissures (T21 is upwards)
    • Low set ears, webbed neck, can see increased nuchal translucency on prenatal ultrasound
    • CNS: mild ID, ASD, ADHD, seizures
    • Cardiac: Pulmonary stenosis, Hypertrophic cardiomyopathy
    • Endo: delayed puberty, GH deficiency, hypothyroid
    • Heme: JMML, FX1 deficiency, lymphedema
      Renal: renal ectopia, structural abnormalities, cryptorchidism
99
Q

Noonan heart things

A

PS, hypertrophic cardiomyopathy

100
Q

Malignancy risk in Noonans?

A

JMML

101
Q

Williams heart thing

A

supravalvular AS

102
Q

Combination of supravalvular aortic stenosis with pulmonary arterial branch stenosis, idiopathic hypercalcemia of infancy, elfin facies and ID

A

williams syndrome

103
Q

Gene williams

A

deletion 7q11

104
Q

clinical ft williams

A
  • Round face with full cheeks and lips, long philtrum, stellate pattern in iris, strabismus, supravalvular aortic stenosis and other cardiac malformations, carrying degrees of ID, friendly personality, recessed nasal bridge
    • Elfin facies
    • Fibromuscular dysplasia
    • Subclinical hypothyroidism
    • Feeding difficulties, slow growth, elfin facies, renovascular disorders, cocktail personality
      Cardiac lesions include supravalvular aortic stenosis, peripheral pulmonic stenosis, aortic hypoplasia, coronary artery stenosis and ASD or VSD
105
Q

Carbamazepine teratogenicity

A
  • Spina bifida, craniofacial defects and CV malformations
106
Q

where is x usually from in turners

A

mom

107
Q

Screening in Turnders

A
  • Should check TPO antibodies and thyroglobulin antibodies regularly, if positive measure TSH and T4
    • Celiac at age 4 and repeated every 2-5 years
    • No GH deficiency evidence
      Treatment
108
Q

Treatment in Turners

A

○ Can treat with GH to increase heigh velocity in most
○ Have to monitor ILGF-1 on GH
○ Can result in excessive growth of hands and feet
○ Replacement therapy with estrogen is indicated to improve growth at 12-13
Estrogen therapy improves memory

109
Q

Gene achondroplasia

A

FGFR3

110
Q

INheritance achondroplasia

A

AD

111
Q

Fragile X clinical ft.

A
  • Long narrow face, large ears
    • Testicular enlargement after age 8
    • Macrocephaly
    • CNS: ID, LD< delayed attainment of motor and language milestones, ADHD, ASD, seizures, late onset tremor and ataxia
    • Development: gaze avoidance, perseverated speech
    • Strabismus
    • Mitral vale prolapse
    • Flexible feet, mild connective tissue disorder
      Testicular enlargement
112
Q

Angleman gene

A

Lack of expression of MATERNALL inherited chromsome 15q11

113
Q

Angleman clinical ft

A
  • Wide mouth, protruding tongue, widely spaced teeth
    • Severe ID, postnatal microcephaly, gait ataxia, seizures, altered sleep cycles
    • Frequent bouts of laughter but have anxiety
    • Happy puppets
    • Constipation, reflux, cyclic vomiting, EoE
      Obesity
114
Q

Cornelia de Lange

A
  • Sproadic, AD
    • Hirsutism
      Upturned nose, ulnar dysplasia, microcephaly, ID, FTT
115
Q

Smith Lemli Opitz inheritance

A

AR

116
Q

Smith Lemli opitz clinical ft.

A
  • Microcephaly, ptosis, anteverted nares
    • Polydactyly
    • 2-3 toe syndactyly
      Severe ID
117
Q

What syndroem do you have 2-3 toe syndactyly

A

smith-lemli-opitz

118
Q

PHACE syndrome

A
  • Posterio fossa malformations
    • Hemangiomas
    • Arterial lesions
    • Cardiac abnormalities
      Eye abnormalities
119
Q

Criteria for PHACE screening

A

Segmental hemangioma of face or facial hemangioma >5cm2 should have work-up with MRI, echo and ocular exam

120
Q

Treacher Collins inheritance

A

AD

121
Q

What are associated with congenitla hypoventilation

A

Hirschsprungs and neural crest tumors

122
Q

gene for congenital hypoventilation

A

PHOX 2B

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