A new case of dup(1)(q21.2q12) in an individual with mild mental retardation

Proximal duplications of the long arm of chromosome 1 are rare and the few patients that have been described in literature have multiple congenital abnormalities and/or mental retardation. The present paper describes the clinical and cytogenetic findings of an adult patient with only mild mental ret...

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Bibliographic Details
Published in:	Genetic counseling Vol. 14; no. 4; p. 407
Main Authors:	Faas, B H W, Mieloo, H, Van Es-Van Gaal, J W M, Van Ravenswaaij, C
Format:	Journal Article
Language:	English
Published:	Switzerland 2003
Subjects:	Adult Chromosomes, Human, Pair 1 Gene Duplication Humans Intellectual Disability - genetics Male
Online Access:	Get more information
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Summary:	Proximal duplications of the long arm of chromosome 1 are rare and the few patients that have been described in literature have multiple congenital abnormalities and/or mental retardation. The present paper describes the clinical and cytogenetic findings of an adult patient with only mild mental retardation and some minor malformations. The patient carries an inverted duplication of 1q12q21.2.
ISSN:	1015-8146