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Article

Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5.

The Japanese journal of human genetics - 1 Sept 1993

Ono K, Ohashi Y, Nakano H, Togashi H, Kannari Y, Isono S

Abstract excerpt

A male infant with partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5 (46,XY,rec(5), dup q,inv(5)(p15.1q35.1)pat) is reported together with the oral findings. The phenotype was chiefly the cri-du-chat syndrome. Severe retardation of mental and motor development, microencephaly, cardiac malformation, crying and facial appearance unique to the cri-du-chat syndrome were...

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Identifiers

PMID: 8260723
DOI: 10.1007/BF01874142

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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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