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Article

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.

Medicine - 1 Apr 2017

Aleksiūnienė Beata, Matulevičiūtė Rugilė, Matulevičienė Aušra, Burnytė Birutė, Krasovskaja Natalija, Ambrozaitytė Laima, Mikštienė Violeta, Dirsė Vaidas, Utkus Algirdas, Kučinskas Vaidutis

Abstract excerpt

RATIONALE: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. PATIENT CONCERNS AND DIAGNOSIS: We report 2 first cousins with unbalanced chromosomal aberrations of chromosomes 1 and 21, resulting from balanced familial translocation. Chromosome microarray analysis revealed 8.5 Mb1q43q44 duplication/21q22.2q22.3 deletion and 6.8 Mb 1q43q44...

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

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Identifiers

PMID: 28422838
DOI: 10.1097/MD.0000000000006521
PMCID: PMC5406054

Genes

AKT3
DSCAM
TMPRSS3
ZBTB18

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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