Literature DB >> 3367354

A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features.

I C Barnes1, D Curtis, S L Duncan.   

Abstract

A structurally abnormal X chromosome was found in a nine year old girl with mild mental retardation and dysmorphic features. Subsequent clinical examination at 18 years of age showed tall stature and gonadal dysgenesis. Re-examination of her karyotype using a variety of banding techniques on prometaphase chromosomes allowed the identification of the abnormal chromosome as a duplication/deficient X chromosome, 46,Xder X(pter----q28::p11.2----pter). The clinical features are discussed in terms of karyotype/phenotype correlation.

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Year:  1988        PMID： 3367354      PMCID： PMC1015512          DOI： 10.1136/jmg.25.4.264

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


  6 in total

1.  Familial x/x translocation: t(x;x)(p22;q13)

Authors:  H J Kim; L Y Hsu; K Hirschhorn
Journal:  Cytogenet Cell Genet       Date:  1974

2.  De novo paracentric inversion in an X chromosome.

Authors:  H M Herr; S J Horton; C I Scott
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

3.  Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function.

Authors:  E A Keitges; C G Palmer; D D Weaver
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  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

5.  Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency.

Authors:  L B Nielsen; K Boczkowski; M Mikkelsen; G Dahl; E Andersen
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  The phenotypic effects of small, distal Xq deletions.

Authors:  C Trunca; E Therman; Z Rosenwaks
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  6 in total
  2 in total

1.  Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe.

Authors:  R T Howell; R Millener; S Thorne; J O'Loughlin; J Brassey; A McDermott
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

2.  Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?

Authors:  Maria Yiu; Zhongxia Qi; Anita Ki; Jingwei Yu
Journal:  Mol Cytogenet       Date:  2015-07-25       Impact factor: 2.009
  2 in total

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