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88 Cards in this Set
- Front
- Back
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meiosis II nondisjunction
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trisomy 18
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forehead plaque
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tuberous sclerosis
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hydrocephalus
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CMV or toxo
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neural crest issue
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Waardenburg
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PAX3
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Waardenburg
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hyperCa
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Williams
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heterochroma iridis
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Waardenburg
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dystopia acanthorum
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Waardenburg
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UBE3A
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Angelman
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CTG repeat
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myotonic dystrophy
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beaked nose
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OI2
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cigarette paper scars
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Ehlers Danlos 1
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microsatellite instability
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HNPCC
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Mondini's syndrome
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Pendred
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syncope
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JLN
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mistaken sepsis
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OTC def
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hyperacusis
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Tay Sachs
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Lisch nodules
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neurofibromatosis
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Triangular facies
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trisomy 18, Williams
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osteoarthritis
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Stickler
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carp lips
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Prader Willi
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undescended testis
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Prader Willi
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femoral head erosions
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Gaucher
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beaded ribs
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OI2
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uterine , colon rupture
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Ehlers Danlos IV
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holoprosencephaly, AMA
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trisomy 13
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absent DTRs
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Charcot Marie Tooth
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frontal balding
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myotoni dystrophy
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rhabdomyoma of heart
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tuberous sclerosis
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renal angiodysplasia
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tuberous sclerosis
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bifid uvula
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DiGeorge
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almond eyes
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Prader Willi
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thyroid CA risk
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Gardner
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Kallman
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X linked ocular albinism
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dysarthria
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Friedrichs
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ambiguous genitalia
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Smith Lemli Opitz
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ear tags
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bronchiootorenal
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advanced paternal
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Marfan, achondroplasia
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farnesylation
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neurofibromatosis
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CGG
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Fragile X
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PDA
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rubella
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Beta catenin destabilization
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Gardner
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flapping hands, hypopigment
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Angel man
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hypopigment
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PKU
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MECP2 (X lined)
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Rett
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epigenetic
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Rett
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loss of fxn (7 disorders)
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Williams, DiGeorge, VCFD, Fragile X, BRCA, MODY, Angelman
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gain of fxn (4 disorders)
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achondroplasia, Charcot Marie Tooth, Huntington, Marfan
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eczema
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PKU
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PAH gene
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PKU
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no HSmegely
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Tay Sachs
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HSmegely
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Gaucher
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wrinkled tissue paper cytoplasm
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Gaucher
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PAS+
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Gaucher
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RTA
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galactosemia
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alopecia, atrophy of optic nerve
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biotinidase def
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no CNS disease
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Gaucher I
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agenesis of corpus callosum
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fetal alcohol syndrome
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oligohydramnios, pulmonary hypoplasia
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ACEi teratogenicity
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arched eyebrow
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Hydantoin teratogenicity
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Spina bifida
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valproate teratogenicity
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beaked nose
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OI2
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premature membrane rupture
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ED1
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rupture of stuff
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Ehlers Danlos
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hypothyroid and Hirschsprungs risk, Brushfield spots
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Downs
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advanced maternal age
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all the trisomies
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contiguous gene syndrome
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Charcot Marie Tooth, HNPP, X linked ocular albinism
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almond eyes, partial albinism
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Prader Willi
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periorbital fullness, hyperCa
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Williams
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CGG, 5' UTR, FMR gene
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Fragile X
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CTG, 3' UTR, MDPK tyr kin
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myotonic dystrophy
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GAA
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Friedrich ataxia
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de novo from male meiosis
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CMT and HNPP
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decreased neuronal size, increased density, decreased arborization
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Rett
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sara buys lots ass butts pookie
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Li Fraumeni
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PTEN
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Cowdens
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Barry tried used Sara
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Cowdens
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APC, beta catenin
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Gardner
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pseudoarthrosis in mid tibia
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neurofibromatosis
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connexin
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non sydromic hearing loss
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medial eyebrow flair
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Waardenburg
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sensorineural loss
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Waardenbug, Usher, Stickler
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conductive loss
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Nager, Treacher Collins
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point mutation
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CF
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clenched hand
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trisomy 18
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cystic kidneys
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trisomy 13
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deletion 22
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Di George
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Downs maternal screen?
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decreased AFP, increased HCG and decreased unconj estriol
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