PMID: 8946112DOI: 10.1111/j.1399-0004.1996.tb02368.xSep 1, 1996Paper
Deletion of the long arm of chromosome 6: two new patients and literature review
Clinical Genetics
L J EversJ P Fryns
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.
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