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Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16.

Authors
  • Roland, B
  • Lowry, R B
  • Cox, D M
  • Ferreira, P
  • Lin, C C
Type
Published Article
Journal
Clinical genetics
Publication Date
Mar 01, 1993
Volume
43
Issue
3
Pages
117–121
Identifiers
PMID: 8500257
Source
Medline
License
Unknown

Abstract

A familial complex chromosomal rearrangement (CCR) was ascertained through a mentally retarded, dysmorphic individual. Carriers of the CCR have the karyotype 46,XX or XY, t(6;15)(q16;q21), ins(3;6)(q12;q14q16), and malsegregation of the CCR resulted in loss of the segment 6q14 to 6q16 in the proband, and in an additional copy of the same segment in three members of the extended family. The proband has features similar to other reported cases with deletion of 6q1. The individuals with duplication of 6q14 to 6q16 have moderate mental retardation, short stature, obesity, microcephaly, brachycephaly, a short smooth philtrum, central hair whorl, simian creases, 5th finger brachydactyly and skeletal disproportion. In the 4-generation family, CCR carriers have a 20% empiric risk of phenotypically abnormal livebirths.

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