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Article

A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report.

BMC pediatrics - 31 May 2021

Fu Dalin, Lin Weisheng, Lu Fen, Du Senjie, Zhu Min, Zhao Xiaoke, Tang Jian, Chen Chuan, Chui Xiaoli, Tang Shanmei, Wang Kai, Yang Chuanchun, Han Bei

Abstract excerpt

BACKGROUND: Interstitial deletions of chromosome band 10q11-q22 was a genomic disorder distinguished by developmental delay, congenital cleft palate and muscular hypotonia. The phenotypes involved were heterogeneous, hinge on the variable breakpoints and size. CASE PRESENTATION: Here, we presented a patient with soft palate cleft, growth and development delay. The patient was a 2 years and 5 months girl who was...

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Identifiers

PMID: 34059004
DOI: 10.1186/s12887-021-02723-y
PMCID: PMC8167982

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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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