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XY gonadal dysgenesis associated with a multiple pterygium syndrome phenotype

✍ Scribed by Angle, Brad; Hersh, Joseph H.; Yen, Frank; Verdi, Gerald D.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 161 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970110)68:1<7::aid-ajmg2>3.0.co;2-p

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✦ Synopsis

Most phenotypic females with an XY male karyotype do not have significant extragenital anomalies; however, some patients with additional abnormalities have been described. We report on an individual with XY gonadal dysgenesis, mental retardation, microcephaly, growth retardation, and multiple pterygia. Although not previously reported, the possible relationship between these findings is discussed in the context of evident heterogeneity of XY gonadal dysgenesis.

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