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Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome
Author(s) -
Orellana Carmen,
Roselló Mónica,
Monfort Sandra,
Mayo Sonia,
Oltra Silvestre,
Martínez Francisco
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37046
Subject(s) - gene duplication , chromosomal translocation , intellectual disability , microcephaly , cousin , genetics , medicine , biology , gene , history , archaeology
This paper describes the presence of an interstitial pure duplication of 19p13.3 (4.95 Mb) in a patient with intellectual disability studied by array‐CGH which was initially considered as a de novo alteration. The discovery of the same chromosomal alteration in a first‐degree cousin of this patient led us to investigate the presence of insertional translocations, which were consequently found in three family generations. The same duplication was found in three intellectually disabled patients and among the translocation carrier family members a very high incidence of miscarriages are reported. A review of other published cases has allowed us to find three other patients with a similar pure duplication, all of them sharing some common clinical findings such as intrauterine growth retardation, microcephaly, motor and speech delay, moderate to severe intellectual disability, and dysmorphic features. These findings allow us to suggest the presence of a new microduplication syndrome in chromosomal region 19p13.3. © 2015 Wiley Periodicals, Inc.