Prenatal detection of an inverted X chromosome in a male
β Scribed by Arthur R. Brothman; Anna Newlin; Susan E. Phillips; Gretchen Q. Kinzie; Lawrence G. Leichtman
- Book ID
- 115091411
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 232 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0009-9163
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Amniocentesis on a 32-year-old woman at risk for trisomy 21 by maternal serum triple screen showed a 46,Y,inv(X) (p22.1q24) karyotype in all cells analyzed. A blood sample was obtained from the mother for cytogenetic evaluation. Since she had the same inversion, DNA replication studies were performe
Nineteen cases of duplication of segments of the long arm of chromosome X have been published in 13 males and in 6 females. We report an additional case of a male with growth and mental retardation, growth hormone deficiency, compensated primary hypothyroidism, distinctive anomalies of the face, hyp