Phenotypic and molecular variability of the holoprosencephalic spectrum
✍ Scribed by Leila Lazaro; Christéle Dubourg; Laurent Pasquier; Franck Le Duff; Martine Blayau; Marie-Renée Durou; Armelle Thomas de la Pintière; Céline Aguilella; Véronique David; Sylvie Odent
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 128 KB
- Volume
- 129A
- Category
- Article
- ISSN
- 1552-4825
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We report on five patients with 45,X/46,XY mosaicism. In these subjects, as well as in 58 individuals from the literature with a similar chromosome constitution, we did not find a preponderance of 46,XY cells among patients showing ambiguous to abnormai male externa1 genitalia when compared to those