Deletion of the long arm of chromosome 6: two new patients and literature review
- 1 September 1996
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 50 (3), 138-144
- https://doi.org/10.1111/j.1399-0004.1996.tb02368.x
Abstract
Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46, XX, del(6)(q16.2q23.1)], and a boy with a terminal deletion [46, XY, del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.Keywords
This publication has 30 references indexed in Scilit:
- De novo interstitial deletion q16.2q21 on chromosome 6American Journal of Medical Genetics, 1995
- Ocular albinism in a male with del (6)(q13-q15): Candidate region for autosomal recessive ocular albinism?American Journal of Medical Genetics, 1992
- Nonrandom chromosome breakpoints in 6q deletionsClinical Genetics, 1992
- Monosomy 6q: report on four new casesClinical Genetics, 1992
- Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndromeClinical Genetics, 1989
- Deletion of terminal portion of 6q: Report of a case with unusual malformationsAmerican Journal of Medical Genetics, 1989
- Deletion of proximal 6q: A clinical report and review of the literatureAmerican Journal of Medical Genetics, 1986
- Congenital anomalies including the VATER association in a patient with a del(6)q deletionThe Journal of Pediatrics, 1977
- Exclusion of the HLA Locus from a Large Portion of the Long Arm of Chromosome 6Human Heredity, 1977