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Flashcards in Turner Syndrome Deck (12):
1

Why does the TS karyotype require at least 30 different cells?

because of mosaicism

2

What is the incidence rate of Turner Syndrome?

1/2500 live female births

2

Any girl who has TS and has an unidentified chromosome fragment should undergo ____ or DNA studies to determine whether that marker consists of Y chromosome material.

fluorescence in situ hybridization (FISH)

2

Neonates with TS come to attention because of ___.

a heart anomaly

3

Teenage girls with TS come to attention because of ___.

primary amenorrhea

5

How is TS cytogenetically diagnosed?

chromosome analysis

6

Turner Syndrome is caused by a deletion of all or part of the _______.

second sex chromosome

6

Fetuses with TS are diagnosed by ___.

chorionic villi sampling or amniocentesis

8

Other phenotypic features of TS include _______.

gonadal dysgenesis or insufficiency, lymphedema of the hands or feet, webbed neck, hyperconvex nails, low hairline, craniofacial abnormalities, small mandible, low set ears, high arched palate, widely spaced nipples

10

Phenotypic eye features of TS include _______.

inner canthal folds, ptosis, blue sclerae

11

Phenotypic skeletal features of TS include _______.

short stature, short 4th metacarpals

12

Young girls with TS come to attention because of ___.

short stature, chronic otitis media