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;
28 Cards in this Set
- Front
- Back
|
most common genetic syndrome
|
Down syndrome (1/800)
|
|
|
work up for common genetic syndromes
|
chromosomes (high resolution)
DNA fish probes MRI of head (global delays) hearing and vision testing |
|
|
**genetics of the fragile X syndrome
|
multiple CGG triplet repeats
usually mutation in the FMR-1 gene (X-linked) |
|
|
clinical features of fragile X syndrome
|
long face, large ears, macrocephaly, macro-orchidism, low IQ, autistic features, behavioral issues, hyperactivity and attention span issues
|
|
|
disorder that involves an XXY phenotype
|
Klinefelter syndrome
|
|
|
clinical features of Klinefelter syndrome
|
Hx of language delay; learning disabilities; IQ below siblings'; tall, thin, narrower shoulders vs. hips; testes remain pre-pubertal; arm span longer than height; sparse facial and body hair; gynecomastia; azoospermia
|
|
|
treatment of Klinefelter syndrome
What sign should prompt checking a patient for klinefelters? |
testosterone replacement that should begin at 11-12 years of age (early ID is ideal)
Accelerated growth velocity mostly in the legs |
|
|
syndrome characterized by XO phenotype
|
Turner syndrome
|
|
|
**A short girl has _____ until proven otherwise
|
Turner syndrome
|
|
|
clinical features of Turner syndrome
|
growth deficiency; low posterior hairline; broad chest w/ widely spaced nipples; cubitus valgus; learning disabilities; hyperactivity and anxiety; webbed neck
|
|
|
syndrome involved w/ a missing piece of chromosome 22
identified w/ a DNA (FISH) probe DiGeorge syndrome is the extreme version |
velocardiofacial syndrome
|
|
|
**clinical characteristics seen in velocardiofacial syndrome
|
palatal abnormalities (NASAL SPEECH); congenital cardiovascular malformation (80%); craniofacial features
|
|
|
typical presentation of velocardiofacial syndrome
|
preschooler w/ hypernasal and delayed speech
|
|
|
**any child w/ a CCVM and a parent w/ psychiatric disease OR any adult w/ CCVM and psychiatric disease should be evaluated for ____
|
velocardiofacial syndrome
|
|
|
**syndrome characterized by a microdeletion on chromosome 7
the Elastin gene is involved (identified by DNA-Fish probe) |
Williams syndrome
|
|
|
common clinical characteristics of Williams syndrome
|
dysmorphic face; CV issues; mental retardation; unique cognitive profile
|
|
|
characteristic facial appearance of kids w/ Williams syndrome
|
wide mouth w/ full lips
|
|
|
behavioral characteristics of kids w/ Williams syndrome
|
overly friendly, "cocktail party chatter," strength in language and auditory memory
|
|
|
Trisomy 21...
Occurs as a result of... |
Down syndrome
nondisjunction during meiosis |
|
|
organ systems to worry about in patients you diagnose w/ Down syndrome
|
heart, vision, hearing
|
|
|
typical physical feature on the hands of kids w/ Down syndrome
|
single, transverse palmar crease
|
|
|
genomic imprinting involved w/ chromosome 15
|
Paternal: Prader-Willi syndrome
Maternal: Angelman syndrome |
|
|
clnical characteristics of Prader-Willi syndrome
|
frequently breech; obesity; short stature; mental retardation; round face w/ almond eyes; hypogonadism; hypersomnolence
|
|
|
clinical characteristics of Angelman syndrome
|
severe mental retardation; microcephaly; "Happy Puppet syndrome"; seizures and marked cerebellar atrophy
|
|
|
Common lysosomal geneitic syndrome
|
mucopolysaccharidoses
|
|
|
Inheritance pattern of lysosomal disorders
|
All are AR (prototype Hurler syndrome)
Exception is Hunters (X-linked) |
|
|
Most common HEREDITARY cause of of Mental retardation
|
Fragile X
|
|
|
What do you always check for in a girl w/ a coarctation?
|
XO
|
