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Article

Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.

Clinical genetics - 1 Sept 2006

Reboul M-P, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L, Moradkhani K, Vu P Y, Saura R, Arveiler B, Lacombe D, Taine L, Iron A

Abstract excerpt

Uniparental disomy (UPD) for several human chromosomes is associated with clinical abnormalities. We report the case of a 2-year-old boy with severe intrauterine and post-natal growth retardation (IUGR/PNGR) and highly variable sweat chloride concentrations. The patient was identified as heterozygous for the F508del mutation of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. Unexpectedly, the...

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Source

Identifiers

PMID: 16922723
DOI: 10.1111/j.1399-0004.2006.00664.x

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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