Genetics Flashcards by Kate ferris

name the defect:

carbamazepine

spina bifida

(esp early in pregnancy - days 15-29 after conception)

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what may be present in fragile x carriers with premutation?

mild cognitive/behavioral deficits

premature ovarian failure

neurodegenerative disorder in older adults

(fragile x associated tremor/ataxia syndrome)

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besides fragile x, what is another disease caused by a triplet repeat?

myotonic dystophy

autosomal dominant pattern

myotonia with progressive weakness and wasting

involvement of facial and jaw muscles

myotonia on grip testing

other involved organs: cataracts, testicular atrophy, diabetes, MR, premature frontal balding

congenital form

worse if inherited from mother

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what findings are seen in NF2?

Bilateral eighth nerve masses seen with appropriate imaging techniques (e.g., CT, MRI)
or
A first-degree relative with NF-2 and a unilateral eighth nerve mass
or two of the following:
• Neurofibroma
• Meningioma
• Glioma
• Schwannoma
• Juvenile posterior subcapsular lens opacity

chromosome 22

also autosomal dominant

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features of type 1 osteogenesis imperfecta?

blue sclera

rare fractures at birth, common in childhood

hearing loss

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name the defect:

phenytoin

fetal hyadtoin syndrome

growth deficiency

devel delay

craniofacial anomalies

hypoplastic nails

vit K deficiency

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congenital varicella

limb anomalies

chorioretinitis

skin scarring

devel delays

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what syndrome includes:

jerky ataxic movements

fair hair

seizures

large chin

laughter

severe MR

angleman’s syndrome

deletion of maternal 15q11-13

“happy puppet”

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klinefelter 47,XXY

meiotic nondisjunction

tall

gynecomastia

small testes

infertile

behavioral problems

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NF1

cafe au lait spots

neurofibromas

axillary freckling

optic glioma

lisch nosdules (iris harmatomas)

learning disorders

60% are sporadic, but AD inheritance

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name the defect:

retinoic acid

findings similar to digeorge

microcephaly

facial nerve palsies

microtia

ear anomalies

CV defects

thymic hypoplaisa

Gu anomalies

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cornelia de lange

autosomal dominant

intrauterine growth retardation, persistent postnatal failure to thrive, moderate to severe cognitive impairment, and microcephaly with a flat occiput and low hairline. Facial features are quite distinctive and include long eyelashes; a fine, almost “brushed-on” appearance of the arch to the eyebrows; occasional synophrys due to hirsutism; small nose with anteverted nostrils; long philtrum; downturned upper lip with cupid’s-bow shape; and micrognathia

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cri-du-chat 5p-

cat cry

moon face

wide spaced eyes

short stature

high palate

heart defects in a 1/3rd

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trisomy 18 (edwards)

IUGR

rocker bottom feet

clubfoot

clenched fist

overlapping fingers

VSD wtih dysplastic valves

more common in girls

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treacher collins

mandibular and maxillary hypoplasia

zygomatic arch defects

ear malformations

colobomata

hearing loss

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dislocated lens, high-arched palate, pectus, mitral valve prolapse?

marfan’s

autosomal dominant

aortic root dilation!

should avoid weight lifting

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noonan syndrome

pulmonic stenosis

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trisomy 13 (patau)

midline defects!

orofacial cleft

small eyes

postaxial polydactyly

holoprosencephaly

hypoplastic/absent ribs

gentical anomalies

cutis aplasia

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what can be seen wtih tuberous sclerosis?

ash leaf spot (seen with woods lamp)

shagreen patch

infantile spasms

cardiac rhabdomyoma

polycystic kidney disease

autosomal dominant

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what type of OI causes death at birth?

type 2, very severe

respiratory failure

multiple fractures

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name the defect:

thalidomide

limb malformations

deafness

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what is mode of inheritance?

xlinked recessive

clues:

only females can transmit to sons
if generation has only females, will have appeared to have skipped that generation
affected father transmits disease allele to all daughters
carrier females have 50% chance of passing on to sons

achondroplasia

shorter proximal than distal parts of extremities

trident hands

macrocephaly

flat nasal bridge, prominent forehead, midface hypoplasia

autosomal dominant - usually new mutation however

increases with advanced paternal age

can have compression of cervical cord

name the defect:

streptomycin

hearing loss

what syndrome includes: hypotonia at birth obesity short stature small hands and feet hypogonadism

prader-willi deletion of paternal 15q11-13

what is WAGR syndrome

Wilm's tumor Aniridia GU malformations Retardation (MR) 11p13- deletion

what are the classic skin findings in ehlers-danlos?

hyperextensible skin extra skin texture of wet sponge/chamois fragile, tears easily thin shiny scars increased brusing mitral valve prolapse is common

name the defect: warfarin

nasal hypoplasia stillpled epiphyses

what is the most common presentation of van hippel-lindau?

cerebellar hemangioma in adolescence retinal hemangioma before age 10

what other disorder do you need to rule out in someone you think has marfans?

homocystinuria

what causes this condition? what other abnormailties may be present?

fragile x (xlinked-ish) CGG repeat MR large head long face, large ears large hands/feet large testes hyperextensible joints

turner syndrome 45,X short stature ovarian failure lack of secondary sex characteristics aortic vavle/coarct thyroiditis

fetal alcohol syndrome

what tumors are commonly seen in patients wiht von hippel-lindau syndrome?

hemangiomas (cerebellum, retina) pheo endolymphatic sac tumors kidney/pancreas cysts renal cell carcinoma neuroendocrine tumors pancreatic tumors

what main things make up hemifacial microsomia?

ear abnormalities with maxillary or mandibular hypoplasia can also have cardiac or vertebral abnormalities goldenhar syndrome: above plus fatty masses on the globes

Alagille syndrome (20p12-) AD inheritance **bile duct paucity with cholestasis** **pulmonary valve stenosis** peripheral artery stenosis triangle chin

what is the mode of inheritance?

autosomal recessive clues: - disorder in sibs but no other generations - males and females equally affected - males and females can pass it on - risk of 2 heterozygotes to have affected is 1/4 - consanguinity increases risk of affected child

which type of OI has the greatest risk of neurologic complications?

type 3 numberous fractures at birth usually cant bear weight

name the defect: lithium

ebstein anomaly (before 8 weeks gestation)

apert syndrome Brachycephaly due to coronal suture synostosis Midface hypoplasia Choanal stenosis Cleft palate Conductive hearing deficits Symmetrical syndactyly of the hands Cervical spine fusion Cardiovascular anomalies Hydronephrosis Cryptorchidism

22q11.2- DiGeorge / velocardiofacial / CATCH22 cleft palate absent thymus tet of fallot / interrupted aortic arch / vsd hypoparathyroidism immune deficiency hypocalcemia

Williams syndrome 7q11.23 deletion friendly personality **supravalvular AS** stellate pattern of the iris down-turned lower lip **hypercalcemia**

wolf-hirschorn syndrome 4p- "greek helmet" facies - hypertelorism, prominent glabella, frontal bossing beaked nose hypotonia heart defects seizures

name the defect: valproic acid

spina bifida craniofacial anomalies preaxial defects

congenital rubella

up to 8 weeks: deafness 9-12 weeks: cataracts 12-30 weeks; heart defects

name the defect: diethylstilbestrol

vaginal adenocarcinoma *in the offspring of the fetus at a later age*

crouzon syndrome Brachycephaly due to coronal suture synostosis Hydrocephaly with Chiari I malformation Hypertelorism Proptosis Midface hypoplasia “Beaked” nose Cleft palate Stylohyoid calcification Conduction and/or neurosensory hearing deficit Cervical spine fusion Acanthosis nigricans

what findings on maternal screen during pregnancy are indicators of down syndrome?

low AFP low estriol elevated hCG elevated inhibin

name the defect: methotrexate

craniosynostosis limb defects craniofacial abnormalities esp b/w weeks 6-9 of gestation

features of OI type 4?

white sclera milder form like type 1 tibial bowing!

if you have a child with ear malformations, what else should you look for?

renal malformations also consider other midline defects

name the defect: tetracycline

bone and tooth staining

what is the mode of inheritance?

autosomal dominant clues: - both sexes are equally affected - both sexes can transmit to offspring - no generation is skipped - every affected child has an affected parent - you see father to son transmission

how is the ear displaced in positional plagiocephaly?

anterior displacement of ear and frontal prominence on the same side as the flattening (everything pushed forward)