Literature DB >> 738735

Partial deletion of the X chromosome in gonadal dysgenesis 46,X,del(X)(p22) identified by BudR treatment.

P Petrinelli, A Antonelli, P Gabellini, F Gigliani, L Marcucci, B Nicoletti.   

Abstract

In this report we describe a deletion of the short arm of the X chromosome in a 16-year-old female with gonadal dysgenesis. The breakpoint was localized by BUdR treatment and acridine orange staining in region 2, band 2. Of the examined cells, 3% showed an early replication of the deleted X chromosome.

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Year:  1978        PMID： 738735     DOI： 10.1007/bf00278734

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


  8 in total

1.  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

2.  [Partial deletion of the short arm of an X chromosome].

Authors:  F Giraud; M Hartung; J F Mattei; Y Bachelet; M G Mattei
Journal:  Arch Fr Pediatr       Date:  1974 Aug-Sep

3.  [Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine].

Authors:  B Dutrillaux; C Laurent; J Couturier; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1973-06-13

4.  New technique for distinguishing between human chromosomes.

Authors:  A T Sumner; H J Evans; R A Buckland
Journal:  Nat New Biol       Date:  1971-07-07

5.  Abnormal X chromosomes in man: origin, behavior and effects.

Authors:  E Therman; K Patau
Journal:  Humangenetik       Date:  1974

6.  Letter: Cytogenetic evidence for evolution of X-chromosome inactivation.

Authors:  J J Hoo
Journal:  Lancet       Date:  1975-06-07       Impact factor: 79.321

7.  [Karyotype-phenotype correlation in a 46,Xdel(X) (p22) diagnosis (author's transl)].

Authors:  M Bartsch-Sandhoff; R Terinde; W Weigelmann; W Scholz
Journal:  Hum Genet       Date:  1976-03-12       Impact factor: 4.132

8.  Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

Authors:  M Fraccaro; P Maraschio; F Pasquali; S Scappaticci
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132
  8 in total
  7 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.  A note on the Xp.

Authors:  J J Hoo
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

3.  Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.

Authors:  S V Hodgson; M E Robertson; C N Fear; J Goodship; S Malcolm; B Jay; M Bobrow; M E Pembrey
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

4.  Partial short arm deletion of the X chromosome 46,X,del(X)(qter = to p21:).

Authors:  M Käosaar; A V Mikelsaar
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

5.  The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.

Authors:  E Therman; B Susman
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

Review 6.  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

Review 7.  Duplication of the short arm of the X chromosome in mother and daughter.

Authors:  C M Tuck-Muller; J E Martinez; D A Batista; W G Kearns; W Wertelecki
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132
  7 in total

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