Literature DB >> 3398005

Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.

J Zonana1, S H Roberts, N S Thomas, P S Harper.   

Abstract

We have restudied a fibroblast cell line from a female with marked manifestations of X linked hypohidrotic ectodermal dysplasia (HED) and a balanced X;9 translocation. Chromosome analysis showed a karyotype of 46,X,t(X;9)(q13.1;p24) with an Xq breakpoint distal to the one previously reported. The significance of the cell line, previously unrecognised, for the mapping and eventual cloning of the HED locus is discussed.

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Mesh：

Year:  1988        PMID： 3398005      PMCID： PMC1050505          DOI： 10.1136/jmg.25.6.383

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


  16 in total

1.  Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.

Authors:  I Oberlé; G Camerino; C Kloepfer; J P Moisan; K H Grzeschik; B Hellkuhl; M C Hors-Cayla; N Van Cong; D Weil; J L Mandel
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

2.  Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

Authors:  A Clarke; D I Phillips; R Brown; P S Harper
Journal:  Arch Dis Child       Date:  1987-10       Impact factor: 3.791

3.  New Giemsa method for the differential staining of sister chromatids.

Authors:  P Perry; S Wolff
Journal:  Nature       Date:  1974-09-13       Impact factor: 49.962

4.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

5.  Proceedings: Report of the Committee on the Genetic Constitution of the X Chromosome.

Authors:  P S Gerald; J A Brown
Journal:  Cytogenet Cell Genet       Date:  1974

6.  Proceedings: An (Xq+; 9p-) translocation suggests the assignment of G6PD, HPRT, and PGK to the long arm of the X chromosome in somatic cell hybrids.

Authors:  T B Show; J A Brown
Journal:  Cytogenet Cell Genet       Date:  1974

7.  Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

Authors:  P N Ray; B Belfall; C Duff; C Logan; V Kean; M W Thompson; J E Sylvester; J L Gorski; R D Schmickel; R G Worton
Journal:  Nature       Date:  1985 Dec 19-1986 Jan 1       Impact factor: 49.962

8.  Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

Authors:  P Wieacker; K E Davies; H J Cooke; P L Pearson; R Williamson; S Bhattacharya; J Zimmer; H H Ropers
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

9.  Identification of a de novo chromosome rearrangement in a man-mouse hybrid clone and its bearing on the cytological map of the human X chromosome.

Authors:  K H Grzeschik; M Siniscalco
Journal:  Cytogenet Cell Genet       Date:  1976

10.  Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids.

Authors:  T B Shows; J A Brown
Journal:  Proc Natl Acad Sci U S A       Date:  1975-06       Impact factor: 11.205
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  11 in total

1.  X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.

Authors:  J Limon; J Filipiuk; B Nedoszytko; K Mrózek; M Castrén; M Larramendy; J Roszkiewicz
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

2.  Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker.

Authors:  A Hanauer; Y Alembik; B Arveiler; L Formiga; S Gilgenkrantz; J L Mandel
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

3.  Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.

Authors:  J Goodship; S Malcolm; A Clarke; M E Pembrey
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  Physical mapping in the region of human Xq12-21.1 using pulsed field gel electrophoresis.

Authors:  A M Jones; S Malcolm; R J Levinsky; C Kinnon
Journal:  Hum Genet       Date:  1993-06       Impact factor: 4.132

6.  Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13.

Authors:  J M Puck; M E Conley; L C Bailey
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

7.  Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice.

Authors:  G A Vargas; E Fantino; C George-Nascimento; J J Gargus; H T Haigler
Journal:  J Clin Invest       Date:  1996-06-01       Impact factor: 14.808

8.  A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.

Authors:  R Fujita; G Sirugo; F Duclos; H Abderrahim; D Le Paslier; D Cohen; B H Brownstein; D Schlessinger; J L Mandel; M Koenig
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

9.  Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.

Authors:  M Chery; V Biancalana; C Philippe; G Malpuech; H Carla; S Gilgenkrantz; J L Mandel; A Hanauer
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

10.  Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case.

Authors:  K D MacDermot; M Hultén
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132
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