Turner/ Downs/ Klinefelter Flashcards
(12 cards)
What is trisomy 21
Down syndrome
Which type of chromosomal disorder manifests with poor muscle tone, cardiac defects, simian crease on palm, delayed puberty, and has a strong relation to Alzheimber’s disease?
Trisomy 21
Which type of chromosomal disorder is diagnosed through maternal screening prior to birth?
Trisomy 21
Which type of chromosomal disorder only affects females?
Monosomy X (Turner syndrome)
Which type of chromosomal disorder manifests with short stature, widely spaced nipples, low-set ears, horseshoe-shaped kidney?
Monosomy X
Which chromosomal condition is diagnosed in females with idiopathic delection of X chromosome?
Monosomy X
How is monosomy X (Turner syndrome) treated?
Growth and sex hormones
Which type of chromosomal disorder only affects males?
Polysomy X (Klinefelter syndrome)
A male with small genitals, sparse body hair, long legs with a short trunk has the manifestations for which disorder?
Polysomy X
Which chromosomal disorder is diagnosed in males with multiple X chromosomes through genetic testing, but is often undetected?
Polysomy X
How is polysomy X (Klinefelter syndrome) treated?
Hormone replacement
Which chromosomal condition is the result of 3 copies of chromosome 21 instead of the typical 2 copies?
Trisomy 21
