Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
26 Cards in this Set
- Front
- Back
|
Which disorder is autosmal dom, leads to short stature, and 2 copies of it are lethal?
|
Achondroplasia
|
|
|
Which is recessive and leads to lack of melanin and red eyes?
|
Albanism
|
|
|
Which leads to a child who cannot speak but are always happy and laughing?
|
Angelman Syndrome
|
|
|
Which is recessive and common in Ashkenazi Jews leading to developmental delays?
|
Blooms Syndrome
|
|
|
Which is extreme sensitivity to UV radiation leading to blisters?
|
Porphyria
|
|
|
Which is a deletion of chrom. 5, significant retardation and a cat like cry at birth?
|
Cri Du Chat
|
|
|
Which is recessive, common in Caucasians and is thick mucas in lungs?
|
Cystic Fibrosis
|
|
|
Which is autosmal dom., frequently showing up in people and other mammals-leads to deformities in fingers and toes?
|
Brachydactyly
|
|
|
Which is XO leading to short infertile females?
|
Turner's Syndrome
|
|
|
Trisomy 21, mental retardation?
|
Down Syndrome
|
|
|
Which is a nervous system disorder beginning at age 40 and is autosomal dom?
|
Huntington's
|
|
|
Which is recessive leading to tall thin structure and heart defects?
|
Marfan's Syndrome
|
|
|
What is a failure of spinal column to close?
|
Spina Bifida
|
|
|
What is really rare and the affected persons cannot feel pain?
|
HSAN
|
|
|
Which is recessive and fatal, neurodegenerative more common in Ashkenazi Jews?
|
Tay Sachs
|
|
|
Which is Trisomy 18 with severe developmental delay and death before 1?
|
Edward's Syndrome
|
|
|
Which is deletion in chrom. 15 with developmental delays and overeating?
|
Prader-Willi Syndrome
|
|
|
Which is an inability to absorb nutrients + weak immune system?
|
Schwachman Diamond Syndrome
|
|
|
Which is sex linked, no immune system "bubble boy disease"?X
|
SCID
|
|
|
Which results in slightly taller but most normal?
|
XYY Syndrome
|
|
|
Trisomy 13, cleft palate and severe retardation death before 1?
|
Patau
|
|
|
Which is XXY only in males leads to men with high voices and boobs?
|
Klinefelter's Syndrome
|
|
|
Accelerated aging and extremely rare?
|
Progeria
|
|
|
Tumors in brain, spinal cord and nerves?
|
Neurofibromatosis
|
|
|
Brittle bone disease?
|
Osteogenesis Imperfecta
|
|
|
Sex linked one of most common disorders to cause delay
|
Fragile X
|
