Sex chromosome inversion in a mosaic girl1
โ Scribed by Drets, M E; Cardoso, J H; Navarro, A
- Book ID
- 109856911
- Publisher
- Nature Publishing Group
- Year
- 1969
- Tongue
- English
- Weight
- 233 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0018-067X
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๐ SIMILAR VOLUMES
A 12-year-old girl with small stature and a hypertrophic clitoris was found to be mosaic for 45,X/46,X.dic(Y)(qtertop11:p11toqter)/46,XX/47,XX,dic(Y)(qtertop11:p11toqter). The dicentric chromosome was identified using Q-banding. These findings indicate mitotic instability of the dicentric Y, as well
Clinical and cytogenetic findings in three patients mosaic for sex chromosomes (45,X0/46,XY; 45,X0/46,XY/46,XYq-, and 45,X0/46,XY/46,XYY), each with a nonfluorescent Y, are presented. Hypotheses for the origin and effect of these chromosome constitutions are discussed.
We report on a case of constitutional mosaicism for a large pericentric inversion of chromosome 9 in a man whose daughter had recombinant aneusomy resulting in partial 9q duplication and partial 9p deletion. At age 6 months, the girl was evaluated because of dysmorphic congenital animal features and