| Literature DB >> 730163 |
J Deroover, J P Fryns, C Parloir, J Haegeman, H van den Berghe.
Abstract
A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germinal deletion in this case.Entities:
Mesh:
Year: 1978 PMID: 730163 DOI: 10.1007/bf00295414
Source DB: PubMed Journal: Hum Genet ISSN: 0340-6717 Impact factor: 4.132