Literature DB >> 641952

Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.

J F Mattei, M G Mattei, J Coignet, F Giraud.   

Abstract

An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.

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Mesh：

Year:  1978        PMID： 641952      PMCID： PMC1013667          DOI： 10.1136/jmg.15.2.154

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  Y/autosomal translocations.

Authors:  J Nielsen; K Rasmussen
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438

2.  [Partial trisomy 13 due to maternal translocation t(2;13)].

Authors:  F Giraud; J F Mattei; M G Mattei
Journal:  Ann Genet       Date:  1977-09

3.  [Crying cat disease associated with complex chromosome rearrangement in a dizygotic twin].

Authors:  J L Taillemite; G Baheux-Morlier; L Cathelineau; C Roux
Journal:  Ann Genet       Date:  1973-06

4.  "Cri du chat" syndrome with maternal insertional translocation.

Authors:  R Berger; G Touati; J Derre; M A Ortiz; J Martinetti
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

5.  A pericentric inversion, 5 p-q+, and additional complex rearrangements in a case of cri-du-chat syndrome.

Authors:  A Catti; W Schmid
Journal:  Cytogenetics       Date:  1971

6.  Autosomal translocation in a mentally retarded male child with 46,XY,t(2q-;13q+) complement. Case report and review.

Authors:  P Genest; R Lachance; J Poty; D Jacob
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318
  6 in total
  6 in total

1.  Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations.

Authors:  B Meer; G Wolff; E Back
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization.

Authors:  D A Batista; C M Tuck-Muller; J E Martinez; W G Kearns; P L Pearson; G Stetten
Journal:  Hum Genet       Date:  1993-09       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

5.  Partial trisomy 4 resulting from a complex maternal rearrangement of chromosomes 2, 4, and 18 with interstitial translocation.

Authors:  M G Mattei; J F Mattei; R Bernard; F Giraud
Journal:  Hum Genet       Date:  1979-09-02       Impact factor: 4.132

6.  Extra Yq and partial monosomy 12p due to a Y;12 translocation in a boy with features of the 12p deletion syndrome.

Authors:  E Orye; M Craen; G Laureys; R van Coster; B van Mele
Journal:  J Med Genet       Date:  1985-06       Impact factor: 6.318
  6 in total

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