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Article

Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization.

Journal of Korean medical science - 1 Dec 2008

Shin Yong Beom, Nam Sang Ook, Seo Eul-Ju, Kim Hyung-Hoi, Chang Chulhun L, Lee Eun-Yup, Son Han-Chul, Hwang Sang-Hyun

Abstract excerpt

Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby presented with a mild phenotype, characterized by a triangular face, almond-shaped eyes, low ears, short stature with relatively long legs, and mild psychomotor retardation....

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Share to Chromosomes, Human, Pair 1
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Share to Oligonucleotide Array Sequence Analysis

Share to Translocation, Genetic

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Source

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Identifiers

PMID: 19119457
DOI: 10.3346/jkms.2008.23.6.1097
PMCID: PMC2610647

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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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