Literature DB >> 2709396

Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes.

J A Crolla1, M Smith, Z Docherty.   

Abstract

A 13 year old male with mild mental retardation, obesity, and poor secondary sexual differentiation was found to have a 46,X,+,mar karyotype. In situ hybridisation with X and Y specific probes proved the marker to be composed of Y centromeric and short arm material.

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Year:  1989        PMID： 2709396      PMCID： PMC1015582          DOI： 10.1136/jmg.26.3.192

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


  5 in total

1.  Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences.

Authors:  E W Jabs; M G Persico
Journal:  Am J Hum Genet       Date:  1987-09       Impact factor: 11.025

2.  Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome.

Authors:  J Wolfe; S M Darling; R P Erickson; I W Craig; V J Buckle; P W Rigby; H F Willard; P N Goodfellow
Journal:  J Mol Biol       Date:  1985-04-20       Impact factor: 5.469

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.  Y-190, a DNA probe for the sensitive detection of Y-derived marker chromosomes and mosaicism.

Authors:  U Müller; T A Donlon; S M Kunkel; M Lalande; S A Latt
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

5.  The sex-determining region of the human Y chromosome encodes a finger protein.

Authors:  D C Page; R Mosher; E M Simpson; E M Fisher; G Mardon; J Pollack; B McGillivray; A de la Chapelle; L G Brown
Journal:  Cell       Date:  1987-12-24       Impact factor: 41.582
  5 in total
  5 in total

1.  Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, southern hybridization and non-isotopic in situ hybridization.

Authors:  F Speleman; B Van der Auwera; K Mangelschots; M Vercruyssen; T Raap; J Wiegant; M Craen; J Leroy
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

Review 2.  Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.

Authors:  P Salo; J Ignatius; K O Simola; E Tahvanainen; H Kääriäinen
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

3.  Deletion mapping of stature determinants on the long arm of the Y chromosome.

Authors:  P Salo; H Kääriäinen; D C Page; A de la Chapelle
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

4.  Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.

Authors:  R Plattner; N A Heerema; Y B Yurov; C G Palmer
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

5.  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
  5 in total

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