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Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).

Gene - 15 Jan 2014

Shim Sung Han, Shim Jae Sun, Min Kyunghoon, Lee Hee Song, Park Ji Eun, Park Sang Hee, Hwang Euna, Kim Minyoung

Abstract excerpt

Chromosome 7q36 microdeletion syndrome is a rare genomic disorder characterized by underdevelopment of the brain, microcephaly, anomalies of the sex organs, and language problems. Developmental delay, intellectual disability, autistic spectrum disorders, BDMR syndrome, and unusual facial morphology are the key features of the chromosome 2q37 microdeletion syndrome. A genetic screening for two brothers with global...

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PMID: 24095776
DOI: 10.1016/j.gene.2013.09.093

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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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