Literature DB >> 7389744

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

M Tolksdorf, J Kunze, H Rossius, H Chiyo.   

Abstract

We report a boy with cri-du-chat syndrome and apparent absence of the Y chromosome. The karyotype is interpreted as 45,X,del(5)(qter leads to p13:). The boy has normal male external genitalia and bilateral testes although no Y chromosome was found in lymphocytes or fibroblasts.

Entities:  

Mesh：

Year:  1980        PMID： 7389744     DOI： 10.1007/bf00496093

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  5 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.  Male with 45,X karyotype.

Authors:  A Forabosco; A Carratu; M Assuma; A De Pol; B Dutrillaux; E Cheli
Journal:  Clin Genet       Date:  1977-08       Impact factor: 4.438

3.  XO and male phenotype.

Authors:  F Lo Curto; E Pucci; S Scappaticci; S Scotta; F Severi; G R Burgio; M Fraccaro
Journal:  Am J Dis Child       Date:  1974-07

4.  Translocation Y/5 resulting in Cri du Chat syndrome.

Authors:  P Vignetti; L Chessa; L Bruni; E Ferrante; B Dallapiccola
Journal:  Clin Genet       Date:  1977-12       Impact factor: 4.438

Review 5.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors:  E Niebuhr
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132
  5 in total
  8 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.  Molecular detection of a translocation (Y;15) in a 45,X male.

Authors:  C M Disteche; L Brown; H Saal; C Friedman; H C Thuline; D I Hoar; R A Pagon; D C Page
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

3.  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 4.  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

5.  The origin of 45,X males.

Authors:  A de la Chapelle; D C Page; L Brown; U Kaski; T Parvinen; P A Tippett
Journal:  Am J Hum Genet       Date:  1986-03       Impact factor: 11.025

6.  Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Authors:  Kelly L Jones; Erin A McNamara; Mauro Longoni; Danny E Miller; Mersedeh Rohanizadegan; Laura A Newman; Frances Hayes; Lynne L Levitsky; Betty L Herrington; Angela E Lin
Journal:  Am J Med Genet A       Date:  2018-08-06       Impact factor: 2.802

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
  8 in total

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