Turner Syndrome

Question 1

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

Answer 1

because of mosaicism

Question 2

What is the incidence rate of Turner Syndrome?

Answer 2

1/2500 live female births

Question 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.

Answer 2

fluorescence in situ hybridization (FISH)

Question 2

Neonates with TS come to attention because of ___.

Answer 2

a heart anomaly

Question 3

Teenage girls with TS come to attention because of ___.

Answer 3

primary amenorrhea

Question 5

How is TS cytogenetically diagnosed?

Answer 5

chromosome analysis

Question 6

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

Answer 6

second sex chromosome

Question 6

Fetuses with TS are diagnosed by ___.

Answer 6

chorionic villi sampling or amniocentesis

Question 8

Other phenotypic features of TS include _______.

Answer 8

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

Question 10

Phenotypic eye features of TS include _______.

Answer 10

inner canthal folds, ptosis, blue sclerae

Question 11

Phenotypic skeletal features of TS include _______.

Answer 11

short stature, short 4th metacarpals

Question 12

Young girls with TS come to attention because of ___.

Answer 12

short stature, chronic otitis media