Literature DB >> 670944

Familial transmission of a 3q;22p translocation, with partial trisomy of chromosome 3 in the propositus.

R Sod, E Giorgiutti, T Matayoshi, G de Kohan, E Munoz.   

Abstract

A family, carrying a balanced 3q;22p translocation, was detected through a propositus who showed multiple congenital malformations. As there are no previous references of similar cases where identification techniques were performed, the authors present this material for consideration in the delineation of clinical syndromes associated with specific chromosomal anomalies.

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Mesh:

Year:  1978        PMID: 670944

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  2 in total

1.  Partial trisomy 3q.

Authors:  E Yunis; L Quintero; A Casteñeda; E Ramirez; M Leibovici
Journal:  Hum Genet       Date:  1979-05-10       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

  2 in total

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