CHILD syndrome in a boy
Journal Article
·
· American Journal of Medical Genetics
DOI:https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J·
OSTI ID:391068
- Univ. of Duesseldorf (Germany)
CHILD syndrome (congential hemidysplasia with ichthyosiform nevus and limb defects) occurs, as a rule, exclusively in girls because of the underlying X-linked gene exerts a lethal effect on male embryos. In this report the characteristic manifestations of CHILD syndrome are described in a 2-year-old boy with a normal chromosome constitution 46,XY. This exceptional case is best explained by the assumption of an early somatic mutation and thus compatible with the concept of X-linked dominant male-lethal inheritance of this trait. 18 refs., 6 figs.
- OSTI ID:
- 391068
- Journal Information:
- American Journal of Medical Genetics, Vol. 62, Issue 2; Other Information: PBD: 15 Mar 1996
- Country of Publication:
- United States
- Language:
- English
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