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Article

Clinical and molecular characterization of the first familial report of 1p32 microdeletion.

Clinical dysmorphology - 1 Apr 2018

Schirwani Schaida, Smith Kath, Balasubramanian Meena

Abstract excerpt

Structural rearrangements of chromosome band 1p31p32 are rare, and their phenotypic consequences remain poorly delineated. Up to 12 patients with learning difficulties, developmental delay, multiple congenital anomalies and microdeletion of the chromosome band 1p31p32 have been described. Inheritance of this deletion has not been reported previously. We describe the inheritance of the 1p32 deletion and discuss...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29240611
DOI: 10.1097/MCD.0000000000000209

Genes

DMRTB1
LRP8
NFIA

Provenance

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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