Literature DB >> 2837364

Clarification of chromosomal abnormalities associated with sexual ambiguity by studies with Y-chromosomal DNA sequences.

J R Stalvey1, R P Erickson, M Dasouki, T Glover, M Shokir.   

Abstract

Cases of gonadal dysgenesis, both Turner syndrome and mixed, were studied with Y centromeric and short-arm probes. The Y-centromeric alphoid repeat clone, Y97, allowed sensitive detection of Y-chromosomal material in marker chromosomes or mosaics by in situ analysis or Southern hybridization with purified DNA. The Y short-arm probe, p75/79, allowed detection of sequences normally associated with proximal Yp by Southern analysis. The presence of DNA fragments characteristic of Yp correlates well with partial male sexual differentiation in the cases of mixed gonadal dysgenesis. Thus, the combined use of molecular and cytogenetic techniques has proven to be a powerful approach to the analysis of chromosomal sex disorders.

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Year:  1988        PMID： 2837364     DOI： 10.1159/000132532

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN： 0301-0171


  6 in total

1.  Cytogenetic and molecular analysis of a Yq isochromosome.

Authors:  M Guttenbach; U Müller; M Schmid
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

2.  Sex determination and species exclusion in forensic samples with probe cY97.

Authors:  P Fattorini; S Cacció; S Gustincich; J Wolfe; B M Altamura; G Graziosi
Journal:  Int J Legal Med       Date:  1991       Impact factor: 2.686

3.  An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.

Authors:  C Cooper; J A Crolla; C Laister; D I Johnston; P Cooke
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

4.  A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction.

Authors:  M Witt; R P Erickson
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

5.  An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content.

Authors:  M Witt; K Michalczak; A Latos-Bielenska; J Jaruzelska; I Kuczora; M Lopez
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

Review 6.  Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.

Authors:  C M Tuck-Muller; H Chen; J E Martínez; C C Shen; S Li; C Kusyk; D A Batista; Y M Bhatnagar; E Dowling; W Wertelecki
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132
  6 in total

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