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Article

A new genomic mechanism leading to cri-du-chat syndrome.

American journal of medical genetics. Part A - 15 Dec 2006

South Sarah T, Swensen Jeffrey J, Maxwell Teresa, Rope Alan, Brothman Arthur R, Chen Zhong

Abstract excerpt

Using standard banding techniques, a within-arm intrachromosomal insertion can be mistakenly interpreted as a paracentric inversion. The need to correctly distinguish between these two types of chromosome rearrangements is emphasized by their different reproductive risks. For carriers of an intrachromosomal insertion, the empiric risk of having a liveborn child with a recombinant chromosome leading to a genetic...

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

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Source

Identifiers

PMID: 17103439
DOI: 10.1002/ajmg.a.31496

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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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A new genomic mechanism leading to cri-du-chat syndrome.PMID 17103439Read ↗

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Variability in a family with an insertion involving 5p.Semantic proximity Read ↗

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