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Article

Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment.

American journal of medical genetics. Part A - 1 Apr 2012

Su Pen-Hua, Lee Inn-Chi, Yang Shun-Fa, Ng Yan-Yan, Liu Chan-Sheng, Chen Jia-Yuh

Abstract excerpt

We report on a newborn girl with facial anomalies, a congenital heart defect, severe pre- and postnatal growth retardation, feeding problems, and persistent hyperplastic primary vitreous. Cytogenetic analysis by high resolution GTG banding showed extra chromosomal material on the short arm of one...

Read the complete abstract on PubMed

Topics

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Share to Abnormalities, Multiple
Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

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Source

Identifiers

PMID: 22407547
DOI: 10.1002/ajmg.a.33943

Genes

ATXN1
DEK
EDN1
FOXC1
FOXF2
FOXQ1
NRN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22407547-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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