Literature DB >> 2659792

Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.

G C Beverstock1, J D MacFarlane, H Veenema, H Hoekman, P J Goodfellow.   

Abstract

An infertile male patient with a 45,X peripheral blood karyotype and a 45,X/46,X,del(Y)(pter----q11.1:) mosaic skin fibroblast karyotype is described. Steroid sulphatase (STS) activity was normal. Recombinant DNA studies using Y chromosome specific probes suggest that almost the entire long arm of the Y chromosome is deleted.

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Year:  1989        PMID： 2659792      PMCID： PMC1015601          DOI： 10.1136/jmg.26.5.330

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


  15 in total

1.  Report of the committee on the genetic constitution of the X and Y chromosomes.

Authors:  K E Davies; J L Mandel; J Weissenbach; M Fellous
Journal:  Cytogenet Cell Genet       Date:  1987

2.  Variable transfer of Y-specific sequences in XX males.

Authors:  N A Affara; M A Ferguson-Smith; J Tolmie; K Kwok; M Mitchell; D Jamieson; A Cooke; L Florentin
Journal:  Nucleic Acids Res       Date:  1986-07-11       Impact factor: 16.971

3.  [Transmission of a small Y through 11 generations in a familial line].

Authors:  P Genest; C Laberge; J Poty; R Gagné; M Bouchard
Journal:  Ann Genet       Date:  1970-12

Review 4.  Deletion of the long arm of the Y chromosome and review of Y chromosome abnormalities.

Authors:  N Fitch; C L Richer; L Pinsky; A Kahn
Journal:  Am J Med Genet       Date:  1985-01

5.  Prenatal identification of a deleted Y chromosome by cytogenetics and a Y-specific repetitive DNA probe.

Authors:  C Disteche; D Luthy; D B Haslam; D Hoar
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Yq deletion (q11.21) in a H-Y+ azoospermic male.

Authors:  M J Martín; M T Rodriguez; V Aller; J A Abrisqueta; J M Rojo
Journal:  Clin Genet       Date:  1985-07       Impact factor: 4.438

Review 7.  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

8.  A deletion map of the human Y chromosome based on DNA hybridization.

Authors:  G Vergnaud; D C Page; M C Simmler; L Brown; F Rouyer; B Noel; D Botstein; A de la Chapelle; J Weissenbach
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

9.  Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation.

Authors:  P E Podruch; F S Yen; N D Dinno; B Weisskopf
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

Review 10.  Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization.

Authors:  M Münke; B de Martinville; E Lieber; U Francke
Journal:  Am J Med Genet       Date:  1985-10
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  3 in total

Review 1.  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

2.  Short stature and azoospermia in a patient with Y chromosome long arm deletion.

Authors:  M De Rosa; D De Brasi; S Zarrilli; L Paesano; R Pivonello; A D'Agostino; S Longobardi; B Merola; G Lupoli; T Ogata; G Lombardi
Journal:  J Endocrinol Invest       Date:  1997-11       Impact factor: 4.256

3.  Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant.

Authors:  L Diekmann; K Palm; R A Pfeiffer; U Trautmann; W Scholz; E Schroers; P Vogt; M Köhler
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132
  3 in total

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