Literature DB >> 1536172

Duplication of distal 19q: clinical report and review.

E Boyd1, F S Grass, J C Parke, K Knutson, R E Stevenson.   

Abstract

We report on a 20-month-old boy with duplication of the distal part of 19q. His karyotype is 46,XY, -22, + der(22),t(19;22)(q13.3;p11.2)mat. The propositus has multiple minor anomalies, congenital heart defects, seizures, profound psychomotor retardation, and growth impairment. These characteristics are similar to those in the other 10 reported cases of distal 19q duplication and help delineate the phenotype. A review of the literature is presented.

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Mesh：

Year:  1992        PMID： 1536172     DOI： 10.1002/ajmg.1320420314

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

1.  Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation.

Authors:  S R Ghaffari; E Boyd; J M Connor; A M Jones; J L Tolmie
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

2.  Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.

Authors:  N M Savage; N A Maclachlan; C A Joyce; I E Moore; J A Crolla
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

3.  A 3 1/2 year old girl with distal trisomy 19q defined by FISH.

Authors:  C James; A Jauch; L Robson; N Watson; A Smith
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

4.  Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.

Authors:  U Trautmann; R A Pfeiffer; U Seufert-Satomi; H U Tietze
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

5.  A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.

Authors:  Licia Lugli; Michela Malacarne; Simona Cavani; Mauro Pierluigi; Fabrizio Ferrari; Antonio Percesepe
Journal:  J Appl Genet       Date:  2011-03-03       Impact factor: 3.240

6.  A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Reports.

Authors:  John Hoon Rim; Jeong A Kim; Jongha Yoo
Journal:  Yonsei Med J       Date:  2017-11       Impact factor: 2.759
  6 in total

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