A familial paracentric inv(1)(q42q44) resulting in a child with a del(1)(q42) karyotype.

M, Speevak; A G, Hunter; H, Hughes; D M, Cox

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Annales de Génétiquearrow_drop_down

Annales de Génétique

Article . 1986

Data sources: Europe PubMed Central

A familial paracentric inv(1)(q42q44) resulting in a child with a del(1)(q42) karyotype.

descriptionPublicationkeyboard_double_arrow_right Article 05 Mar 1986 English Journal:Annales de genetique, volume 28 (issn: 0003-3995,

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Authors: M, Speevak; A G, Hunter; H, Hughes; D M, Cox;

pmid: 3879153

A familial paracentric inv(1)(q42q44) resulting in a child with a del(1)(q42) karyotype.

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Abstract

The derivation of a 46,XY,del(1)(q42) chromosome complement in a mentally retarded child from a maternal paracentric inv(1)(q42q44) is discussed and the clinical findings are compared to previously reported cases of the same deletion syndrome.

Keywords

Chromosome Aberrations, Male, Chromosomes, Human, 1-3, Chromosome Disorders, Pedigree, Intellectual Disability, Karyotyping, Chromosome Inversion, Humans, Abnormalities, Multiple, Chromosome Deletion, Child

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