Literature DB >> 881199

Short-arm deletion of an X chromosome (45,XO/46,XX p--).

P Kaiser, K Gerhard-Ratschow, B Zabel, E Daume.   

Abstract

A 31-year-old female patient with short stature, signs of gonadal dysgenesis, and slight Turner signs is described with a mosaic 45,XO/46,XX del (X) (qter leads to p11) determined with trypsin Giemsa-banding and C-staining. BUdR incorporation indicated the deleted X to be late replicating.

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Mesh:

Year:  1977        PMID: 881199     DOI: 10.1007/bf00293778

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


  11 in total

1.  TURNER'S SYNDROME WITH SECONDARY AMENORRHOEA AND SEX CHROMOSOME MOSAICISM.

Authors:  D R LONDON; N H KEMP; J R ELLIS; U MITTWOCH
Journal:  Acta Endocrinol (Copenh)       Date:  1964-07

2.  THE ROENTGEN APPEARANCE OF THE HAND AND WRIST IN GONADAL DYSGENESIS.

Authors:  J KOSOWICZ
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1965-02

Review 3.  KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS.

Authors:  M A FERGUSON-SMITH
Journal:  J Med Genet       Date:  1965-06       Impact factor: 6.318

4.  Short arm deletion of an X chromosome, 46,XXp-.

Authors:  P Kaiser; B Zabel; S Hansen; E Daume
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

5.  Fluorescence and autoradiographic studies in patients with Turner's syndrome and 46,XXp- and 46,XXq- karyotypes.

Authors:  K Boczkowski; M Mikkelsen
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

6.  Banding in human chromosomes treated with trypsin.

Authors:  H C Wang; S Fedoroff
Journal:  Nat New Biol       Date:  1972-01-12

7.  An inherited X-autosome translocation in man.

Authors:  K E Buckton; P A Jacobs; L A Rae; M S Newton; R Sanger
Journal:  Ann Hum Genet       Date:  1971-10       Impact factor: 1.670

8.  Abnormalities of human sex chromosomes. II. Turner's syndrome associated with the mosaicism 45,X-46, XX-p.

Authors:  J L Simpson; F H Allen; J German
Journal:  Ann Genet       Date:  1971-06

9.  45,X-46,XXp-mosaicism in a prepubertal girl.

Authors:  R L Neu; T Kajii; T B Nolan; L I Gardner
Journal:  Ann Genet       Date:  1968-03

10.  Apparent deletion of X chromosome in a prepuberal girl.

Authors:  E Steinberger; A Steinberger; K D Smith; W H Perloff
Journal:  J Med Genet       Date:  1966-09       Impact factor: 6.318

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  3 in total

1.  Inactivation centers in the human X chromosome.

Authors:  Y Nakagome
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

2.  Structural anomalies of the X chromosome and inactivation center.

Authors:  M G Mattei; J F Mattei; I Vidal; F Giraud
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

3.  Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome.

Authors:  Rajasekhar Moka; Kodandapani Sreelakshmi; Puthiya Mundyat Gopinath; Kapettu Satyamoorthy
Journal:  J Hum Reprod Sci       Date:  2013-04
  3 in total

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