✦ LIBER ✦

Inherited inverted duplication of X chromosome in a male: Report of a patient and review of the literature

✍ Scribed by Shapira, Moshe; Dar, Hanna; Bar-El, Hanna; Bar-Nitzan, Noga; Even, Lea; Borochowitz, Zvi

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 43 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971112)72:4<409::aid-ajmg7>3.0.co;2-l

No coin nor oath required. For personal study only.

✦ Synopsis

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, hypoplastic genitalia, and hypotonia in whom inverted duplication of a segment in the long arm of X chromosome was diagnosed, 46,Y, dup (X)(q21.2q13.3), and mosaicism was demonstrated in his mother's X chromosome. The rearranged segment was diagnosed utilizing high resolution G-band technique and FISH studies, using chromosome TM X total chromosome probe and DNA XIST probe.

This appears to be the first report of a patient with duplication of Xq and hypothyroidism. Am. J. Med. Genet. 72:409-414, 1997.

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