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Pediatrics > Genetic disorders - Autosomal, X linked, Chromosomal > Flashcards

Genetic disorders - Autosomal, X linked, Chromosomal Flashcards

1
Q 
Hypotonia
Short stature
Cat-like cry
Microcephaly
MR
Wide and flat nasal bridge

What is it?

A

Cri du chat syndrome

Deletion of 5p

Other features:

  • moonlike face
  • hypertelorism
  • bilateraly epithcanthal folds
  • high arched palate
  • VSD
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2
Q 
"Greek helmet" facies
Ocular hypertelorism
Prominent glabella
Frontal bossing
Dolichocephal
Hypoplasia of eye socket
Ptosis
Strabismus
Beaked nose
MR

What is it?

A

Wolf Hirschhorn syndrome

Deletion of 4p

Also have:

  • microcephaly
  • bilateraly epicanthal folds
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3
Q 
Hypotonia
Frog like legs
Depressed midface
MR
Belligerent personality
A

18q deletion

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4
Q 
Microcephaly
Flat wide nasal bridge
Low birth wt
FTT
Ocular malformations
Syndactyly
Hypoplastic or absent thumbs
Micrognathia
Severe MR
A

13q deletion

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5
Q 
Hypertonia
Downward slanting palpebral fissures
High palate
Prominent nasal bridge
Low set ears
micrognathia
A

21q deletion

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6
Q

Beckwith-Wiedemann syndrome

  • pathogenesis
  • PE
  • Complications
  • Surveillance
A

Deregulation of imprinted gene expression in chromosome 11

  • Fetal macrosomia
  • Rapid growth until late childhood
  • Omphalocele or umbilical hernia
  • Macroglossia
  • Hemihyperplasia

MUST MONITOR NEWBORN FOR HYPOGLYCEMIA!

Complications:

  • Wilms tumor
  • hepatoblastoma
  • -> Pts with isolated hemihyperplasia are not at risk for Wilms tumor and hepatoblastoma

Surveillancee:

  • serum AFP
  • Ab/renal US
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7
Q

Fragile X syndrome

A

X linked defect
- affects methylation and expression of FMR1 gene

Trinucleotide repeat disorder! (CGG)

#2 cause of genetic MR
#1 cause MR in boys

Autism + MR

Long narrow face
Prominent jaw
Large ears
Macroorchidism
Macrocephaly

Mitral valve prolapse

Joint hyperlaxity + hypotonia

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8
Q

3 yo while girl p/w rectal prolapse

Small for height and weight

Foul smelling bulky stool every day that floats

Repetitive cough

A

Cystic fibrosis

  • AR
  • chr 7 (del of Phe 508)
  • gene codes for CFTR

CFTR:

  • actively secretes Cl- in lungs and GI
  • reabsorbs Cl- from sweat

If can’t secrete Cl- in lungs –> thick mucus cause water doesn’t go there –> plugs lungs and pancreas and liver!

  • morbidity and mortality dependent on rate of progression of lung disease

Characteristics:

  • chronic airway obstruction and infection
  • malabsorb
  • FTT
  • increased salt content in sweat and other secretions

Presentation:

  • meconium ileus
  • salty taste on skin
  • recurrent resp infections
  • malabosprtion
  • nasal polyp
  • rectal prolapse
  • pale stool

Dx:
- increased [ Cl- ] in sweat test via quantitative pilocarpin iontophoresis (will induce sweating so can measure Cl)

Tx:
N acetylcysteine to loosen mucous plugs

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9
Q

Clinical features of cystic fibrosis

A

Respiratory

  • Obstructive lung dz —–> bronchiectasis
  • Recurrent PNA
  • Chronic rhinosinusitis

GI

  • Obstruction –> meconium ileus, distal intestinal obstruction syndrome
  • Pancreatic dz –> exocrine pancreatic insufficiency, diabetes

Repro
- infertility

MS

  • osteopenia –> fx
  • kyphoscoliosis
  • digital clubbing
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10
Q

Freidreich Ataxia

A

AR or AD

Frataxin gene

  • GAA triplet repeats
  • chr 9

Frataxin is mt protein in iron hemostasis

Sx < 10 yo

  • dysarthric speech and nystagmus
  • ataxia
  • absent DTRs
  • skeletal deformities / feet deformities
  • DM

Tx - none

Assoc - HYPERTROPHIC cardiomyopathy!!!!

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11
Q

Lesch-Nyhan

A

X linked

D/o of purine metabolism
- missing hypoxanthine guanine phosphoribosyl transferase (HPRT)

Gives you too much uric acid!

Neuro dysfunction
Motor delay
Self destructive behavior
Choreoathetosis

Dx:

  • HPRA enzyme analysis
  • presence of dystonia + self mutilation

Tx:

  • allopurinol for renal complications
  • behavior mod, restraints
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12
Q

Wilson disease (Hepatolenticular degeneration)

  • genetics
  • signs
  • dx
  • tx
A

AR

Degeneration of basal ganglia 2/2 increased Cu deposition

Parkinsonism signs + liver failure

Starts between adolescence - 40 yo

Kayser Fleischer rings - at limbus of cornea

Dx:

  • Low serum copper
  • Low ceruloplasmin
  • high urine Cu after give penicillamine
  • CT –> hypodense areas in region of basal ganglia
  • MRI –> increased T2 signal in caudate and putamen

Tx:

  • reduce Cu intake
  • D-penicillamine to chelate copper
  • triehtylene tetramine dihydrochloride for pts sensitive to penicillamine
  • zinc sulfate to reduce Cu absorption
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13
Q

Duchenne Muscular Dystrophy

A

X linked RECESSIVE
- deletion of dystrophin gene (helps anchor muscle fibers)

Presents @ 2-3 yo

Sx:

  • poor head control may be 1st sign
  • Calf muscle hypertrophy
  • Gower’s sign, waddling gait
  • proximal weakness

Assoc:

  • Cardiomyopathy **
  • MR

Dx:

  • Increased CPK
  • muscle bx (necrosis, fat cells, fibrous tissue)

Prognosis:

  • wheelchair bound by age 12
  • death by 18 2/2 resp problems
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14
Q

Becker Muscular Dystrophy

A

X linked RECESSIVE

Presents > age 5

Sx:

  • like Duchenne but milder
  • calf pain w/ exercise

Assoc:

  • NO MR
  • Cardiomyopathy

Labs:
- Increased CK but less than DMD

Prognosis:
- Pts ok to walk until early adulthood

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15
Q

Inheritance pattern of ocular albinism

A

X linked recessive

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16
Q

Werdnig Hoffman inheritance pattern

A

Autosomal recessive

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17
Q

Charcot Marie Tooth inheritance

A

Autosomal dominant

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18
Q

Neurofibromatosis inheritance

A

Autosomal dominant

Type 1 –> chromosome 17

Type 2 –> chromosome 22

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19
Q

Tuberous sclerosis

  • core features
  • presentation
  • PE
A

Neurocutaneous syndrome

AD
Ch 9 + 16
– many are new mutations though

Core features:

  • MR
  • facial fibroangiomas
  • hypopigmented spots of skin
  • epilepsy

Presentation:

  • infantile spasms
  • rhabdomyomas of heart –> arrhythmias

PE:

  • ash leaf spots (hypopigmentation)
  • shagreen patches
  • sebaceous adenomas (acne like)
  • retinal hamartomas
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20
Q

Tuberous sclerosis

  • dx
  • tx
  • complications
A

Dx

  • Tubers are characteristic
  • periventricular calcified tubers on CT of head

Tx:
- goal is seizure control

Complications:
- tubers can become malignant astrocytomas

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21
Q

Trisomy 21 (Down syndrome)

A

Usually 2/2 meiotic nondisjunction of homologous chr

Features:

  • hypotonia
  • small stature
  • MR
  • flat occiput
  • upslanting palpebral fissures
  • inner epicanthal folds
  • Brushfield spots (in iris)
  • hypoplastic teeth
  • clinodactyly
  • simian creases
  • wide gap between 1st and 2nd toes

Cardiac:

  • atrioventricular valve defects (endocardial cushion defects)
  • VSD
  • ASD
  • PDA

Skin:

  • dry skin
  • cutis marmorata (red/blue spiderwebs 2/2 cold)

MS:
- Atlantaxial instability

Higher risk for:

  • duodenal atresia
  • atlantoaxial instability
  • ALL
  • alzheimers

Quad screen:

  • decreased AFP, estriol
  • increased b-HCG, inhibin (HI)
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22
Q

Trisomy 18 (Edwards syndrome)

A

2 common trisomy

ELection age = 18

Features:

  • weak cry
  • polyhydramnios
  • MR, growth deficiency
  • micognathia
  • low set ears
  • CLENCHED hands
  • ROCKER BOTTOM feet

Cardiac:
- VSD (#1)

10% survive to 1 yo

Quad screen:

  • decreased AFP, b-HCG, estriol
  • normal inhibin A
23
Q

Trisomy 13 (Patau syndrome)

A

Risks:
- advanced maternal age

Features:

  • midline defects - clefts, scalp defects, microcephaly, HOLOPROSENCEPHALY (failure of forebrain to divide properly)
  • microphthalmia
  • colobomas of iris
  • polydactyly

10% survive > 1 yo

Quad screen:

  • decreased b-HCG, PAPP-A
  • increased nuchal translucency
24
Q

Turner Syndrome

A

XO

Sporadic

Usually is paternal X chromosome that is missing

Features:

  • short stature
  • gonadal dysgenesis
  • congenital lymphedema (resolves)
  • broad chest
  • webbed neck
  • cubitus valgus ( forearm is angled away from the body to a greater degree than normal when fully extended)
  • pigmented nevi

Cardiac:

  • bicuspid aortic vavle
  • coarctation of aorta

Horseshoe kidneys

Need estrogen replacement

25
Q

Kleinfelter syndrome

A

1 single cause of hypogonadism and infertility

47 XXY

Features:

  • low IQ
  • behavior issues
  • tall + slim w/ long limbs
  • hypogonadism + small penis
  • gynecomastia

Tx:
- testosterone replacement at 11-12 years

26
Q

Achondroplasia inheritance if inherited

A

AD

Cell signaling defect of Fibroblast growth factor receptor 3

27
Q

LEOPARD syndrome

A

AD

Lentigines - small pigmented skin spots that are benign

EKG abnormalities - long PR, etc

Ocular hypertelorism

Pulmonic stenosis

Abnormal genitalia (hypogonadism, cryptorchidism)

Retarded growth

Deafness

28
Q

Waardenburg Syndrome

A

AD
If fresh mutation, assoc w/ older paternal age

  • Lateral displacement of inner canthi
  • Severe b/l DEAFNESS
  • Partial albinism
29
Q

Peutz-Jeghers Syndome

A

AD
But high rate of spontaneous mutation

  • Pigmentation (lips, oral mucous)
  • Polyps in jejunum, GI tract
  • many have intussusception
  • Polyps have low rate of malignancy
  • clubbing of fingers seen
30
Q

Ataxia Telangiectasia

A

Autosomal Recessive

Chromosome 11

Ataxia —> wheelchair by age 10

Telangiectasia @ 3 yo –> usually on bulbar conjunctiva

Chronic URI

Deficient cellular immunity

Higher risk malignancies

Death 2/2 serious infections or neuro deficit

31
Q

Ehler Danlos syndrome

A

Autosomal Dominant

Type 4 - autosomal recessive

Qualitative collagen deficiency

Features:

  • hyperextensible skin + joints
  • poor wound healing
  • MVP
32
Q

Marfan syndrome

A

Autosomal dominant

Fibrillin 1 gene mutation

Features:

  • tall
  • arachnodactyly (fingers are abnormally long and slender in comparison to the palm of the hand)
  • kyophosis
  • pectus excavatum

Ocular:

  • lens subluxation
  • myopia
  • RD

Cardiac:

  • dissecting aneurysm of ascending aorta
  • MVP

Normal intelligence

Vascular complications are chief cause of death

33
Q

Prader Willi syndrome

A

Deletion on chromosome 15
- paternal allele is not expressed

MR
Hyperphagia
Obesity
Hypogonadism
Hypotonia
34
Q

Angelman’s syndrome

A

Deletion on chromosome 15
- maternal allele is not expressed

MR
Seizures
Ataxia
Inappropriate laughter

35
Q

Uniparental disomy

A

Offspring gets 2 copies of chromosome from 1 parents, none from the other

Most get normal phenotype

Consider this when a person gets a recessive DO and only 1 parents is carrier

36
Q

Laurence Moon Biedl syndrome

A

AR

Obesity
Retinits pigmentosa
Polydactyly
Spastic paraplgia
Hypogonadism
MR
37
Q

Variable expressivity

A

Phenotype varies among ppl w/ same genotype

2 ppl with NF 1 have varying severity

38
Q

Incomplete penetrance

A

Not all ppl w/ mutant genotype show the phenotype

BRCA1 gene mutations don’t always get breast cancer

39
Q

Pleiotropy

A

1 gene gives many different phenotypic effects

40
Q

Anticipation

A

Increased severity or earlier onset of dz in next generations

41
Q

Linkage disequlibrium

A

Tendency for alleles at 2 linked loci to occur together more often than by chance

Measured in population

42
Q

Locus heterogeneity

A

Mutations at different loci can produce same phenotype

Marfans, MEN 2B , and homocystinuria all cause marfanoid habitus

43
Q

Heteroplasmy

A

Normal and mutated mt DNA present resulting in variable expression in mt inherited dz

44
Q

Osler Weber Rendu syndrome

A

Hereditary hemorrhage telangiectasia

AD

Inherited DO of blood vessels

telangiectasia
Recurrent epistaxia
skin discolorations
AVM

45
Q

Von Hippel Lindau disease

A

AD
Deletion of VHL gene on chromosome 3

Hemangiblastomas of retina/cerebellum/medulla

Usually get b/l RCC

Will activate angiogenic growth factors and constituitive expression of HIF transcription factor

46
Q

Williams syndrome

A

Deletion of long arm chromosome 7
- has elastin gene on it

  • Elfin facies
  • Intellectual disability + well developed verbal skills
  • HyperCALCEMIA
  • VERY friendly

Supravalvular aortic stenosis common

47
Q

22q1 deletion syndromes

A

CATCH-22

  • Cleft palate
  • Abnormal facies
  • Thymic aplasia –> T cell deficiency
  • Cardiac defects
  • Hypocalcemia 2/2 parathyroid aplasia

Part of syndromes:

  • DiGeorge
  • Velocardiofacial syndrome
48
Q

G6PD deficiency

A

X linked recessive

Need NADPH to get glutathione reduced
- decreased NADPH in RBC –> hemolytic anemia 2/2 poor RBC defense against oxidizing agents

Heinz bodies (Hg precipitated in RBCs)
Bite cells
49
Q

Shwachman-Diamond syndrome

A

AR

Chromosome 7

Features:

  • exocrine pancreatic dysfunction,
  • haematologic abnormalities (neutropenia)
  • growth retardation

Can look like CF but CF doesn’t have neutropenia

50
Q

Waardenburg syndrome

A

AD

Characteristics for dx;

  • sensorineural hearing loss
  • iris pigmentary abnormality
  • hair hypopigmentation (white forelock or white hairs at other sites on the body)
  • dystopia canthorum (lateral displacement of inner canthi)
  • first‐degree relative previously diagnosed with Waardenburg syndrome
51
Q

Noonan syndrome

A

AD

Characteristics:

  • pulmonary valve stenosis
  • hypertrophic cardiomyopathy
  • short stature,
  • learning problems,
  • webbed neck
  • ptosis
52
Q

Myotonic muscular dystrophy

A

AD

Normal at birth
Develop progressive muscle weakenss and wasting, esp in distal muscles of hands

Characteristic facial feature:
- upper lip in shape of inverted V

Myotonia = delayed muscle relax
- can’t release hand after handshake

DM
Testicular atrophy
Frontal baldness
Hypothyroidism

53
Q

Kartegener’s syndrome

A

AR

Triad:

  • situs inversus
  • recurrent sinusitis
  • bronchiectasis

Due to dysmotile cilia (dyenin arms issue in production or attachment)

Pediatrics (17 decks)

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