Literature DB >> 317784

Trisomy 3q : two clinically similar but cytogenetically different cases.

M T Mulcahy, P J Pemberton, P Sprague.   

Abstract

The clinical and cytogenetic findings in two unrelated infants both trisomic for differing amounts of the long arm of chromosome 3 are described and discussed in relation to previously reported cases and the existence of a distinct syndrome of trisomy 3q is confirmed. Assignment of the gene for human red blood cell galactose-1-uridyltransferase is discussed.

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Year:  1979        PMID: 317784

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  4 in total

1.  Where is the gene for GALT?

Authors:  M T Mulcahy; R G Wilson
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 2.  Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.

Authors:  A J van Essen; K Kok; A van den Berg; B de Jong; F Stellink; A F Bos; H Scheffer; C H Buys
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

3.  Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Authors:  Jill A Rosenfeld; Blake C Ballif; Donna M Martin; Arthur S Aylsworth; Bassem A Bejjani; Beth S Torchia; Lisa G Shaffer
Journal:  Hum Genet       Date:  2010-04       Impact factor: 4.132

4.  Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype.

Authors:  Deniz Cemgil Arıkan; Ayhan Coşkun; Ilker Arıkan; Gürkan Kıran; Gülay Ceylaner
Journal:  J Turk Ger Gynecol Assoc       Date:  2010-12-01
  4 in total

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