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Article

Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family.

American journal of medical genetics. Part A - 1 Jan 2015

Mohamed Amal Mahmoud, Kamel Alaa, Mahmoud Wael, Abdelraouf Ehab, Meguid Nagwa

Abstract excerpt

We describe a large family from the Gaza Strip presented with multiple congenital anomalies. The proband was presented with intellectual disability and multiple congenital anomalies including cleft palate, low-set ears, everted upper lip, diaphragmatic hernia, and arthrogryposis. Pedigree analysis showed 19 affected patients over five generations, only 6 were alive and 11 individuals were obligate carriers. The...

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Share to Chromosomes, Human, Pair 1
Share to Chromosomes, Human, Pair 16

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25425358
DOI: 10.1002/ajmg.a.36834

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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