Literature DB >> 589854

Translocation Y/5 resulting in Cri du Chat syndrome.

P Vignetti, L Chessa, L Bruni, E Ferrante, B Dallapiccola.   

Abstract

A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.

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Mesh：

Year:  1977        PMID： 589854     DOI： 10.1111/j.1399-0004.1977.tb00949.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  11 in total

Review 1.  A sterile male with 45,X0 and a Y;22 translocation.

Authors:  J Arnemann; S Schnittger; G K Hinkel; E Tolkendorf; J Schmidtke; I Hansmann
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

2.  A Y/5 translocation in a 45,X male with cri du chat syndrome.

Authors:  B Weber; W Schempp; U Orth; H Seidel; A Gal
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

Review 3.  Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Authors:  R M Davis
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

4.  Mitotic and meiotic analysis of a reciprocal translocation t(Y;3) in an azoospermic male.

Authors:  J Gonzales; S Lesourd; B Dutrillaux
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 5.  Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.

Authors:  J O Van Hemel; B Eussen; E Wesby-van Swaay; B A Oostra
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

6.  A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1.

Authors:  N Abbas; G Novelli; N C Stella; O Triolo; F Corrado; M Fellous; M Chery; S Gilgenkrantz; B Dallapiccola
Journal:  Hum Genet       Date:  1990-11       Impact factor: 4.132

7.  A 45,X male with Y-specific DNA translocated onto chromosome 15.

Authors:  A Gal; B Weber; G Neri; A Serra; U Müller; W Schempp; D C Page
Journal:  Am J Hum Genet       Date:  1987-06       Impact factor: 11.025

8.  Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11.

Authors:  M Andersson; D C Page; D Pettay; I Subrt; C Turleau; J de Grouchy; A de la Chapelle
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

Review 9.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

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

10.  Male infant with cat cry syndrome and apparent absence of the Y chromosome.

Authors:  M Tolksdorf; J Kunze; H Rossius; H Chiyo
Journal:  Eur J Pediatr       Date:  1980-05       Impact factor: 3.183
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