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.
|Original language||English (US)|
|Number of pages||5|
|Journal||American Journal of Medical Genetics|
|State||Published - Jan 10 1997|
- XY gonadal dysgenesis
- multiple pterygium
ASJC Scopus subject areas