Literature DB >> 598835

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation.

L Tiepolo, O Zuffardi, A Rodewald.   

Abstract

An unbalanced X/Y translocation was found in a male child with malformed external genitalia and in his mother, who are respectively nullisomic and monosomic for the distal portion of Xp and have the translocated distal segment of Yq in excess. The loss of the distal portion of Xp is supposed to be the cause of the phenotypic abnormalities present in these subjects. The phenotype of our subjects is compared with those of the other cases of X/Y translocation described in the literature.

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Mesh：

Year:  1977        PMID： 598835     DOI： 10.1007/bf00295420

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


  4 in total

1.  Y to X translocation in a woman with reproductive failure. A new rearrangement.

Authors:  G Khudr; K Benirschke; H L Judd; J Strauss
Journal:  JAMA       Date:  1973-10-29       Impact factor: 56.272

2.  Letter: Y-to-X translocation in a girl.

Authors:  D S Borgaonkar; B M Sroka; M Flores
Journal:  Lancet       Date:  1974-01-12       Impact factor: 79.321

3.  Non-fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism.

Authors:  C Fonatschi; S D Flatz; R Freymann
Journal:  Clin Genet       Date:  1977-03       Impact factor: 4.438

4.  Y to X translocation in man.

Authors:  H van den Berghe; P Petit; J P Fryns
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132
  4 in total
  23 in total

1.  FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY.

Authors:  S Kirsch; B Weiss; M De Rosa; T Ogata; G Lombardi; G A Rappold
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

2.  Prenatal diagnosis of inv(X)(q12q28) in a male fetus.

Authors:  R L Neu; H S Brar; B J Koos
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

3.  Fine mapping of the distal short arm of the human X chromosome using X/Y translocations.

Authors:  R L Geller; L J Shapiro; T K Mohandas
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

4.  Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction.

Authors:  G Scherer; W Schempp; M Fraccaro; E Bausch; V Bigozzi; P Maraschio; E Montali; G Simoni; U Wolf
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132

5.  Localization of Y chromosome sequences and X chromosomal replication studies in XX males.

Authors:  W Schempp; G Müller; G Scherer; S K Bohlander; W Rommerskirch; M Fraccaro; U Wolf
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

6.  A 45,X male with a Yp/18 translocation.

Authors:  E Maserati; F Waibel; B Weber; M Fraccaro; A Gal; F Pasquali; W Schempp; G Scherer; R Vaccaro; J Weissenbach
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

7.  Clinical consequences of Xp-.

Authors:  J Egozcue
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq.

Authors:  B Bardoni; G Floridia; S Guioli; G Peverali; C Anichini; M Cisternino; R Casalone; C Danesino; M Fraccaro; O Zuffardi
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132

9.  Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

Authors:  M Fraccaro; P Maraschio; F Pasquali; S Scappaticci
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132

Review 10.  Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.

Authors:  Peter M Elias; Mary L Williams; Eung-Ho Choi; Kenneth R Feingold
Journal:  Biochim Biophys Acta       Date:  2013-11-27
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