Literature DB >> 3783628

A de novo X;13 translocation with abnormal phenotype.

S V Hodgson, J C Barber, A Dowie, V Dubowitz.   

Abstract

We describe a female infant who presented with hypotonia and developmental delay. Her karyotype showed a de novo balanced translocation between the X chromosome and chromosome 13, with breakpoints at Xq13 and 13p11. The normal X was late replicating in all cells examined. The cause of this patient's abnormal phenotype is discussed.

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Year:  1986        PMID： 3783628      PMCID： PMC1049790          DOI： 10.1136/jmg.23.5.477

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


  5 in total

1.  Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.

Authors:  J M Murray; K E Davies; P S Harper; L Meredith; C R Mueller; R Williamson
Journal:  Nature       Date:  1982-11-04       Impact factor: 49.962

2.  Two cases of X/autosome translocation in females with incontinentia pigmenti.

Authors:  S V Hodgson; B Neville; R W Jones; C Fear; M Bobrow
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Prometaphase banding of human chromosomes with basic fuchsin.

Authors:  J M Scheres; G F Merkx; T W Hustinx
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  X long-arm deletions. A review of non-mosaic cases studied with banding techniques.

Authors:  L Skibsted; H Westh; E Niebuhr
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 5.  Balanced structural changes involving the human X: effect on sexual phenotype.

Authors:  K Madan
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
  5 in total
  3 in total

Review 1.  Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

Authors:  E Hatchwell
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

2.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Authors:  W P Robinson; A Bottani; Y G Xie; J Balakrishman; F Binkert; M Mächler; A Prader; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

Review 3.  Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132
  3 in total

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