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Article

[A case of partial 1p36.1 deletion and partial trisomy 6p diagnosed by karyotype].

Revista chilena de pediatria - 1 Jan 2000

Fernández Pineda Monica, Ramírez-Cheyne Julián, Isaza Carolina, Saldarriaga Wilmar

Abstract excerpt

The deletion of chromosomal region 1p36 is one of the most common sub-telomeric microdeletion syndromes and has distinctive dysmorphic features. On the other hand, partial trisomy of the short arm of chromosome 6 is a rare chromosomal abnormality with a variable phenotype. OBJECTIVE: To report a case with both chromosome abnormalities, and to highlight the importance of the karyotype as a diagnostic tool in...

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

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Identifiers

PMID: 27262749
DOI: 10.1016/j.rchipe.2016.04.010

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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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[A case of partial 1p36.1 deletion and partial trisomy 6p diagnosed by karyotype].PMID 27262749Read ↗

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[Application of chromosome microarray analysis for prenatal diagnosis of a fetus with partial duplication of 1p and uniparental disomy of chromosome 6].Semantic proximity Read ↗

Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: a family case report and review of the literature.Semantic proximity Read ↗

Delineation of two distinct 6p deletion syndromes.Semantic proximity Read ↗

Prenatal diagnosis and ultrasonographic findings of partial trisomy of chromosome 6q: A case report and review of the literature.Semantic proximity Read ↗

Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype.Semantic proximity Read ↗

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Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: Molecular cytogenetic analysis, fetal pathology and review of the literatureSemantic proximity Read ↗

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