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Article

Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).

American journal of medical genetics. Part A - 1 Nov 2008

Gajecka Marzena, Saadeh Reem, Mackay Katherine L, Glotzbach Caron D, Spodar Krystyna, Chitayat David, Shaffer Lisa G

Abstract excerpt

Deletion of chromosome 1p36 is the most commonly observed terminal deletion in humans with a frequency of 1 in 5,000 in the general population. In contrast, 22q13 duplications are rare and only a few cases have been reported. Unbalanced translocations resulting in monosomy 1p36 and a trisomy of 22q13.3 are, thus far, unreported in the literature. Here we present the clinical data and the results of array CGH and...

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Identifiers

PMID: 18958851
DOI: 10.1002/ajmg.a.32427

Genes

PER3

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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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