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Article

Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.

American journal of medical genetics. Part A - 1 Apr 2016

Mekkawy Mona K, Mazen Inas M, Kamel Alaa K, Vater Inga, Zaki Maha S

Abstract excerpt

Many chromosomal rearrangements that lead to copy-number gains or losses have been shown to cause distinctive and recognizable clinical phenotypes. Conventional cytogenetic analysis can detect many, but not all, rearrangements depending on its power of resolution. The wide use of whole-genome array-based comparative genomic hybridization (array-CGH) techniques has allowed the detection of novel syndromes and to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26749249
DOI: 10.1002/ajmg.a.37523

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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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