Literature DB >> 10422005

Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype.

E Goossens1, P Decock, S Potgieter, J P Fryns.   

Abstract

We report a proximal duplication in the long arm of chromosome 15 (15q11-15q13) in mosaic with a normal cell line in a 4-year-old boy presenting developmental delay and history of seizures, but normal phenotype.

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Year:  1999        PMID： 10422005

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  1 in total

1.  Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Authors:  D T Miller; Y Shen; L A Weiss; J Korn; I Anselm; C Bridgemohan; G F Cox; H Dickinson; J Gentile; D J Harris; V Hegde; R Hundley; O Khwaja; S Kothare; C Luedke; R Nasir; A Poduri; K Prasad; P Raffalli; A Reinhard; S E Smith; M M Sobeih; J S Soul; J Stoler; M Takeoka; W-H Tan; J Thakuria; R Wolff; R Yusupov; J F Gusella; M J Daly; B-L Wu
Journal:  J Med Genet       Date:  2008-09-19       Impact factor: 6.318
  1 in total

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