Literature DB >> 834552

[Prenatal detection of crying cat syndrome due to balanced translocation in one parent].

N Barjaktarović, B Pendić, B Garzicić, M Popovic, A Paljm.   

Abstract

Prenatal detection of "Cri du chat" syndrome, as the consequence of balanced translocation 46,XY,t (5, 15) (p 13, p11) of the father, is described. A phenotipically normal child, with the same type of translocation possesed by his father was born in this family, as well as a child with "Cri du chat" syndrome. Four pregnancies were termed by spontaneous abortion. In the seventh pregnancy amniocenthesis was performed. On the basis of cell culture of amniotic fluid the diagnosis of "Cri du chat" syndrome was established. The diagnosis was confirmed by culture of peripheral blood of prematurely born foetus. Tissue cultures of some fetal organs were performed in order to find the origin of amniotic cells whose culture served for screening cytogenetic analysis.

Entities:  

Mesh:

Year:  1977        PMID: 834552

Source DB:  PubMed          Journal:  Nouv Presse Med        ISSN: 0301-1518


  2 in total

1.  Reciprocal translocation t(5;6)(p13;q27) through three generations: case report of cri du chat syndrome.

Authors:  T Hashimoto; R Tsukino; H Chiyo; J Furuyama
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

Review 2.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors:  E Niebuhr
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

  2 in total

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