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Article

A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations.

American journal of medical genetics. Part A - 1 May 2009

Schlade-Bartusiak Kamilla, Ardinger Holly, Cox Diane W

Abstract excerpt

Patients with terminal deletions of chromosome 14 usually share a number of clinical features. The syndrome is thought not to be associated with multiple congenital anomalies. We report on a patient having a terminal deletion of about 3.2 Mb, with the breakpoint in 14q32.32. Multiple health problems led to his early death. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19365838
DOI: 10.1002/ajmg.a.32752

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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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