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Article

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

BMC medical genomics - 15 Jul 2015

Qi Zhongxia, Jeng Linda Jo Bone, Slavotinek Anne, Yu Jingwei

Abstract excerpt

BACKGROUND: Chromosome 6pter-p24 deletion syndrome (OMIM #612582) is a recognized chromosomal disorder. Most of the individuals with this syndrome carry a terminal deletion of the short arm of chromosome 6 (6p) with a breakpoint within the 6p25.3p23 region. An approximately 2.1 Mb terminal region has been reported to be responsible for some major features of the syndrome. The phenotypic contributions of other...

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Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 6
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26174853
DOI: 10.1186/s12920-015-0113-1
PMCID: PMC4502905

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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