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Article

Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.

American journal of medical genetics - 8 Oct 1999

Cai T, Yu P, Tagle D A, Xia J

Abstract excerpt

We describe a 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low-nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible....

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Share to Abnormalities, Multiple
Share to Chromosome Banding
Share to Chromosomes, Human, Pair 21

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 7

Share to Craniofacial Abnormalities

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

Share to Translocation, Genetic

Source

Identifiers

PMID: 10494083

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10494083-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.PMID 10494083Read ↗

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