Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?
Journal Article
·
· American Journal of Medical Genetics
- Children`s Hospital of Philadelphia, PA (United States)
Cleidocranial dysplasia (CCD) is classically an autosomal dominant disorder. However, the possibility of an autosomal recessive form of CCD has been suggested based on a report of 2 consanguineous families, one with a single affected child, the second with affected sibs, born to normal parents. We present a family with sibs with CCD born to normal parents, and suggest germ line mosaicism as the more likely mechanism for this occurrence. 30 refs., 2 figs., 1 tab.
- OSTI ID:
- 539206
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 69; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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