Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.

D M, Ioan; C, Maximilian; A, Kleczkowska; J P, Fryns

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Annales de Génétiquearrow_drop_down

Annales de Génétique

Article . 1993

Data sources: Europe PubMed Central

Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.

descriptionPublicationkeyboard_double_arrow_right Article 21 Jan 1993 English Journal:Annales de genetique, volume 35 (issn: 0003-3995,

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Authors: D M, Ioan; C, Maximilian; A, Kleczkowska; J P, Fryns;

pmid: 1466567

Distal deletion of the long arm of chromosome number 1 (q43-->qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome.

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Abstract

A 6 8/12-year-old girl with severe mental retardation, multiple congenital malformations and a de novo distal deletion of the long arm of chromosome 1 [del 1 (q43-->qter)] is here described. A review of the reported patients does not allow to distinguish different phenotypes related to distal deletion 1q42 and/or 1q43.

Related Organizations

Institute of Endocrinology
Czech Republic

Keywords

Facial Expression, Chromosomes, Human, Pair 1, Intellectual Disability, Skull, Humans, Female, Chromosome Deletion, Child, Facial Bones, Chromosome Banding

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