Names some ortho issues in DS patients.
Hip problems, joint subluxation, alantoaxial subluxation
Name some endocrine issues in DS patients.
Thyroid disease (usually hypo), insulin-dependent diabetes, alopecia areata, reduced fertility
What is the detection rate for DS in a second trimester screen?
digit is curved in towards the palm
DS is caused by an error of ______.
Risk of DS increases with increasing ________.
Name some ENT issues in DS patients.
chronic ear infections, deafness, chronic nasal congestion, enlarged tonsils and adenoids
Name some GI issues in DS patients.
structural anomalies, feeding problems, constipation, GERD, Celiac disease
What are the physical features present at birth in DS patients?
midfacial hypoplasia, upslanting palpebral fissures*, epicanthal folds, small ears, large appearing tongue, low muscle tone, increased joint mobility, short fingers, transverse palmar crease, clinodactyly, increased space btw toes 1 and 2
Unbalanced translocation between chromosome ___ and another acrocentric chromosome occurs in 3-4% of patients with DS.
short arm is so short that it's hard to observe; 6 human chromosomes (13, 14, 15, 21, 22, and Y)
_____ is the most common chromosomal abnormality seen in liveborn infants.
The phenotype of Mosaic Tri 21 is usually ____.
What does a first trimester screen for DS look for?
nuchal folds + b-hCG (human chorionic gonadotropin) + PAPP-A (pregnancy-associated plasma protein A)
95% of Down Syndrome is caused by ____.
What does a second trimester screen for DS look for?
quad screen - b-hCG (human chorionic gonadotropin), AFP (a-fetoprotein), unconjugated estriol, and inhibin level
Mosaic Tri 21 is mixture of ____.
normal cells and cells containing Tri 21
All types of cardiac anomalies may be present in DS, but ____ is very common.
What is the combined detection rate for DS in a first and second trimester screen?
incomplete or partial dislocation
separation of chromosome pairs or chromatids
Name some psychiatric issues in DS patients.
Depression, early Alzheimer's, Autism
Name some developmental issues in DS patients.
Hypotonia, moderate cognitive disability, speech problems
skin fold of upper, innermost part of eyelid
_________ between chromosome 21 and another acrocentric chromosome occurs in 3-4% of patients with DS.
What is the detection rate for DS in a first trimester screen?
Name some hematologic issues in DS patients.
Myeloproliferative disorder in the newborn, increased risk of leukemia, iron deficiency anemia
Name some ophthalmologic issues in DS patients.
blocked tear ducts, myopia, lazy eye, nystagmus, cataracts
Name some neurological issues in DS patients.