Literature DB >> 3621653

Tandem duplication (1) (q11----q22) in a male infant with multiple congenital malformations.

F Mertens, B Johansson, M Forslund, M Olsson, U Kristoffersson.   

Abstract

An inverted tandem duplication of 1q11-q22 was found in a male infant with severely retarded psychomotor development, growth retardation, and multiple congenital malformations. Trisomy for this segment of chromosome 1 has not been previously reported.

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Year:  1987        PMID： 3621653     DOI： 10.1111/j.1399-0004.1987.tb03322.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  2 in total

Review 1.  Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.

Authors:  D de Silva; D Massie; J Drummond; D Couzin; J C Dean
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

2.  De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies.

Authors:  Shirley Lo-A-Njoe; Lars T van der Veken; Clementien Vermont; Louise Rafael-Croes; Vincent Keizer; Ron Hochstenbach; Nine Knoers; Mieke M van Haelst
Journal:  Case Rep Genet       Date:  2016-01-31
  2 in total

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