Literature DB >> 3198130

A mosaic 45,X/46,X,r(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique.

J A Crolla1, J C Llerena.   

Abstract

The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female patient presenting with a 45,X/46,X,r(?) karyotype could not be resolved by conventional cytogenetic (including G11) methods. Non-autoradiographic in situ hybridization of biotinylated X and Y centromere-specific alphoid repetitive sequence probes unequivocally and rapidly identified the ring to be of X origin.

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Year:  1988        PMID： 3198130     DOI： 10.1007/bf00283735

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


  22 in total

1.  Organization and evolution of alpha satellite DNA from human chromosome 11.

Authors:  J S Waye; L A Creeper; H F Willard
Journal:  Chromosoma       Date:  1987       Impact factor: 4.316

2.  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

3.  Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes.

Authors:  W Schmid; E Naef; G Mürset; A Prader
Journal:  Humangenetik       Date:  1974

4.  Y ring chromosome associated with gonadoblastoma in situ.

Authors:  G Khudr; K Benirschke
Journal:  Obstet Gynecol       Date:  1973-06       Impact factor: 7.661

5.  Combined cytogenetic techniques and non-fluorescent Y. Cytologic evidences of dic(Yp)(q11) in a previously interpreted 46,X,Yq-.

Authors:  J C de Almeida; J C Llerena; M Jung; R R Martins; D M Gomes; D F Reis; A G Cunha
Journal:  Ann Genet       Date:  1986

6.  G-11 staining in Turner's syndrome with mos 45,X/46,X,r(?).

Authors:  J C de Almeida; J C Llerena; D Molina Gomes; R Rita Martins; M Jung; D F Reis; A G Cunha
Journal:  Ann Genet       Date:  1985

7.  Mechanisms of giemsa banding of chromosomes. I. Giemsa-11 banding with azure and eosin.

Authors:  H E Wyandt; D G Wysham; S K Minden; R S Anderson; F Hecht
Journal:  Exp Cell Res       Date:  1976-10-01       Impact factor: 3.905

8.  Cytogenetic findings in 125 patients with Turner's syndrome and abnormal karyotypes.

Authors:  R Coco; C Bergada
Journal:  J Genet Hum       Date:  1977-06

9.  The age of occurrence of gonadal tumors in intersex patients with a Y chromosome.

Authors:  M Manuel; P K Katayama; H W Jones
Journal:  Am J Obstet Gynecol       Date:  1976-02-01       Impact factor: 8.661

10.  Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases.

Authors:  J A Crolla; S Gilgenkrantz; J de Grouchy; T Kajii; M Bobrow
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132
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  11 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

2.  Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome.

Authors:  M Guttenbach; J Köhler; M Schmid
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

3.  Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics.

Authors:  A Jauch; C Daumer; P Lichter; J Murken; T Schroeder-Kurth; T Cremer
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

4.  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

5.  Oligonucleotide-priming methods for the chromosome-specific labelling of alpha satellite DNA in situ.

Authors:  J E Koch; S Kølvraa; K B Petersen; N Gregersen; L Bolund
Journal:  Chromosoma       Date:  1989-10       Impact factor: 4.316

6.  Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.

Authors:  D F Callen; H J Eyre; G Dolman; M B Garry-Battersby; J R McCreanor; A Valeba; J J McGill
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

Review 7.  Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

Authors:  D J Wolff; C J Brown; S Schwartz; A M Duncan; U Surti; H F Willard
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

8.  Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases.

Authors:  J A Crolla; S Gilgenkrantz; J de Grouchy; T Kajii; M Bobrow
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132

9.  A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.

Authors:  J A Crolla; N R Dennis; P A Jacobs
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

10.  Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes.

Authors:  V Lindgren; C P Chen; C R Bryke; P Lichter; D C Page; T L Yang-Feng
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132
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