Literature DB >> 7358380

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

T Hashimoto, R Tsukino, H Chiyo, J Furuyama.   

Abstract

A male infant with cri du chat syndrome was found to have a deletion of the short arm of No. 5 chromosome and which was due to maternal reciprocal translocation t(5;6)(p13;q27). His elder sister and his grandfather were also identified as the translocation carriers.

Entities:  

Mesh：

Year:  1980        PMID： 7358380     DOI： 10.1007/bf00273485

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  18 in total

1.  [3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].

Authors:  J LEJEUNE; J LAFOURCADE; R BERGER; J VIALATTE; M BOESWILLWALD; P SERINGE; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1963-11-18

2.  Cri-du-chat and trisomy 13 syndromes in an infant with an unbalanced chromosomal translocation.

Authors:  J Leisti; M M Kaback; D L Rimoin
Journal:  Birth Defects Orig Artic Ser       Date:  1975

3.  Cri du chat syndrome [46, XY, 5p-] with balanced B/F translocation in father and grandfather: a case report.

Authors:  F Char
Journal:  Birth Defects Orig Artic Ser       Date:  1974

4.  [Familial segregation of a t(5p-;13q+). Complementary analysis from specimens preserved in liquid nitrogen].

Authors:  S Carpentier; B Dutrillaux; J Lafourcade; R Berger; M O Rethoré; J Lejeune
Journal:  Ann Genet       Date:  1972-03

5.  [5-21-22 translocation and the crying cat syndrome].

Authors:  J de Grouchy; J C Gabilan
Journal:  Ann Genet       Date:  1965

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

Authors:  N Barjaktarović; B Pendić; B Garzicić; M Popovic; A Paljm
Journal:  Nouv Presse Med       Date:  1977-01-22

7.  Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation.

Authors:  K Fried; M Tieder; S Beer; M Rosenblatt; H I Krespin
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

Review 8.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

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

9.  Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors:  B Noel; B Quack; M O Rethore
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438

10.  Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship.

Authors:  E Back; W Vogel; C Hertel; L Schuchmann
Journal:  Hum Genet       Date:  1978-02-23       Impact factor: 4.132
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