Mild developmental delay in terminal chromosome 6p deletion
- 8 July 2004
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 129A (2) , 201-205
- https://doi.org/10.1002/ajmg.a.30127
Abstract
Deletions involving the short arm of chromosome 6 are relatively rare. Although features of this condition are variable, common findings include developmental delay, ocular abnormalities, hearing loss, and cardiac defects. In an effort to define further the clinical variability of this condition, we report a 6‐year‐old female with a de novo terminal deletion of chromosome 6 at band 6p24, with mild gross motor delays and normal cognition.Keywords
This publication has 14 references indexed in Scilit:
- Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairmentEuropean Journal of Human Genetics, 2003
- Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.Journal of Medical Genetics, 1998
- Endothelin-1 transgenic mice develop glomerulosclerosis, interstitial fibrosis, and renal cysts but not hypertension.Journal of Clinical Investigation, 1997
- Partial Deletion of Chromosome 6p: Autopsy Findings in a Premature Infant and Review of the LiteraturePediatric Pathology & Laboratory Medicine, 1995
- Partial deletion of chromosome 6p: Delineation of the syndromeAmerican Journal of Medical Genetics, 1991
- Terminal deletion 6P23: A case reportAmerican Journal of Medical Genetics, 1990
- Distal deletion of the short arm of chromosome 6American Journal of Medical Genetics, 1990
- Two rare cases of 6p partial deletionClinical Genetics, 1989
- A patient with an interstitial deletion of the short arm of chromosome 6Clinical Genetics, 1988
- Ring chromosome 6: Report of a patient and literature reviewAmerican Journal of Medical Genetics, 1987