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Article

Psychomotor retardation with a 1q42.11-q42.12 deletion.

Hereditas - 1 Jan 2017

He Jialing, Xie Yingjun, Kong Shu, Qiu Wenjun, Wang Xiaoman, Wang Ding, Sun Xiaofang, Sun Deming

Abstract excerpt

A 1q42 deletion is a rare structure variation that commonly harbours various deletion breakpoints along with diversified phenotypes. In our study, we found a de novo 1q42 deletion in a boy who did not have a cleft palate or a congenital diaphragmatic hernia but presented with psychomotor retardation. A 1.9 Mb deletion located within 1q42.11-q42.12 was validated at the molecular cytogenetic level. This is the...

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Share to Child, Preschool
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Share to Polymorphism, Single Nucleotide

Source

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Identifiers

PMID: 28286461
DOI: 10.1186/s41065-016-0022-0
PMCID: PMC5340030

Genes

EPHX1
LBR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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