| Literature DB >> 8064823 |
E D'Alessandro1, C Ligas, M L Lo Re, M P Marcanio, T Gentile, G Del Porto.
Abstract
A de novo apparently balanced translocation between chromosomes 7 and 15 with breakpoints in q32 and q15 respectively is reported in a female child. Clinical features included general growth and psychomotor retardation, feeding problems, microcephaly, low set ears, a short neck, and brachydactyly. These findings suggested possible physical or functional partial monosomy of the 7q32 or 15q15 segments. The phenotype of this case is similar to other cases of 7q deletion.Entities:
Mesh:
Year: 1994 PMID: 8064823 PMCID: PMC1049877 DOI: 10.1136/jmg.31.5.413
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318