A ring Y chromosome was found in a male showing growth retardation and aspermia but normally developed external genitalia. The ring does not display either the characteristic brilliant Y fluorescence or the typical late-replicating heterochromatin.
Prenatal detection of an unstable ring 21 chromosome
β Scribed by Gail Stetten; Bernadette Sroka; Virginia L. Corson; Corinne D. Boehm
- Publisher
- Springer
- Year
- 1984
- Tongue
- English
- Weight
- 569 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0340-6717
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A psychomotor-retarded infant with minor dysmorphic signs and a karyotype 46,XY,r(21)mat in lymphocytes is reported. The mother is phenotypically normal but shows the same unstable r(21). This is another case demonstrating that a chromosomal aberration does not necessarily lead to infertility by mei
We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a second-trimester fetus with mosaic ring chromosome 13 and anencephaly. A 35-year-old, gravida 3, para 2 woman was referred for genetic counselling at 23 weeks' gestation because of an elevated maternal serum alpha