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Article

A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero.

Clinical dysmorphology - 1 Jul 2003

Neas Katherine R, Chia Nicole, Clarke Melanie, Peters Gregory, Adès Lesley C

Abstract excerpt

We describe the phenotypic features in a newborn infant with an unbalanced translocation 46,XY, der(22) inv(4) (p14p16.1) t(4;22) (p15.1;q13.31)pat. The phenotype was consistent with partial trisomy 4p syndrome. Severe bilateral hydronephrosis was diagnosed at a 31 week prenatal ultrasound scan. Both the patient phenotype and the partial trisomy are unusual, the latter due to the complex nature of the chromosomal...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14564156
DOI: 10.1097/01.mcd.0000072162.33788.8d

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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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