Mild phenotypic manifestation of a 7p15.3p21.2 deletion.
Open Access
- 1 July 1993
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (7) , 610-612
- https://doi.org/10.1136/jmg.30.7.610
Abstract
A 28 month old girl with dysmorphic features was found to have an interstitial deletion of the short arm of chromosome 7p15.3-7p21.2. The patient had ptosis, dacryostenosis, pectus excavatum, short hands, and her development was normal or mildly delayed. Craniosynostosis and growth retardation, which were present in two other patients with similar deletions, were not present. Because of the mild manifestations, this case expands the clinical spectrum of the 7p15-7p21 deletion phenotype.Keywords
This publication has 25 references indexed in Scilit:
- Major rearrangements in the α5(IV) collagen gene in three patients with alport syndromeGenomics, 1991
- Identification of Mutations in the COL4A5 Collagen Gene in Alport SyndromeScience, 1990
- De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.Journal of Medical Genetics, 1989
- Localization of the gene for classic Alport syndromeGenomics, 1989
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989
- ANTI-GLOMERULAR BASEMENT MEMBRANE ANTIBODY-MEDIATED NEPHRITIS COMPLICATING TRANSPLANTATION IN A PATIENT WITH ALPORTʼS SYNDROMETransplantation, 1988
- Localization of the gene for X-linked Alport's syndromeKidney International, 1988
- The clinical spectrum of hereditary nephritisKidney International, 1985
- Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.Journal of Medical Genetics, 1979
- Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 → 7p21American Journal of Medical Genetics, 1979