Literature DB >> 3042599

A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion.

D P Duckett1, I D Young.   

Abstract

A 7 3/4-year-old girl with short stature was found to have a recombinant (X),dup q chromosome resulting from an apparently unique pericentric inversion (X)(p11.2q26) present in her mother and maternal grandmother. The recombinant X chromosome was shown to be late replicating and the inversion X chromosome to be randomly inactivated. This appears to be only the eighth report (7 female, 1 male) of a recombinant resulting from an X pericentric inversion despite all diagnosed females having mild clinical abnormalities. Reasons for the rarity of such recombinant X chromosomes in man are examined.

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Year:  1988        PMID： 3042599     DOI： 10.1007/BF00366246

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


  15 in total

1.  Structural X-chromosome abnormality in a female with gonadal dysgenesis.

Authors:  H Kristensen; U friedrich; G Larsen; A J Therkelsen
Journal:  Humangenetik       Date:  1975

2.  Incidence of major chromosome abnormalities in children.

Authors:  S R Patil; H A Lubs; J Brown; M Cohen; P Gerald; F Hecht; W Kimberling; N Myrianthopoulos; R L Summitt
Journal:  Cytogenet Cell Genet       Date:  1977

3.  Pericentric inversions of the X chromosome. A new observation and review of the published cases.

Authors:  R A Pfeiffer; M Kossakiewicz; C Baisch
Journal:  J Genet Hum       Date:  1986-08

Review 4.  Pericentric inversions in man. A French collaborative study. Groupe de Cytogénéticiens Français.

Authors: 
Journal:  Ann Genet       Date:  1986

5.  Recombinant chromosome as a result of pericentric inversion of X chromosome.

Authors:  J Nikolis; E Stolević
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

6.  Structural differences in pericentric inversions. Application to a model of risk of recombinants.

Authors:  A Daniel
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  X-autosome translocations: cytogenetic characteristics and their consequences.

Authors:  M G Mattei; J F Mattei; S Ayme; F Giraud
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

8.  Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inversion X chromosome.

Authors:  T Maeda; M Ohno; M Takada; M Nishida; K Tsukioka; H Tomita
Journal:  Clin Genet       Date:  1979-03       Impact factor: 4.438

Review 9.  Balanced structural changes involving the human X: effect on sexual phenotype.

Authors:  K Madan
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  Position of the human X inactivation center on Xq.

Authors:  E Therman; G E Sarto; C G Palmer; H Kallio; C Denniston
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132
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  3 in total

Review 1.  The critical region on the human Xq.

Authors:  E Therman; R Laxova; B Susman
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.

Authors:  V Shashi; W L Golden; P S Allinson; S H Blanton; C von Kap-Herr; T E Kelly
Journal:  Am J Hum Genet       Date:  1996-06       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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