Literature DB >> 3989830

De novo paracentric inversion in an X chromosome.

H M Herr, S J Horton, C I Scott.   

Abstract

A 10 1/2 year old female with skeletal abnormalities was referred for genetic consultation because of learning disabilities and a suggestion of 'Turner-like' stigmata. Cytogenetic analysis revealed a paracentric inversion of an X(q13.1q26.1) chromosome.

Entities:  

Mesh：

Year:  1985        PMID： 3989830      PMCID： PMC1049401          DOI： 10.1136/jmg.22.2.140

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


  5 in total

1.  High resolution of human chromosomes.

Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

Review 2.  X-autosome translocations: a review.

Authors:  R L Summitt; R E Tipton; R S Wilroy; P R Martens; J P Phelan
Journal:  Birth Defects Orig Artic Ser       Date:  1978

3.  Identification of chromosomal abnormalities by quinacrine-staining technique in patients with normal karyotypes by conventional analysis.

Authors:  C del Solar; I A Uchida
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

4.  X inactivation in man: a woman with t(Xq--;12q+).

Authors:  G E Sarto; E Therman; K Patau
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

5.  A case of a paracentric inversion inv(7)(q11q22). Prenatal detection and counselling.

Authors:  M A Ridler; S D Sutton
Journal:  Prenat Diagn       Date:  1981-01       Impact factor: 3.050
  5 in total
  5 in total

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

Authors:  I C Barnes; D Curtis; S L Duncan
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318

2.  A practical metaphase marker of the inactive X chromosome.

Authors:  D L Van Dyke; W L Flejter; M J Worsham; J R Roberson; J V Higgins; H M Herr; S Knuutila; N Wang; V R Babu; L Weiss
Journal:  Am J Hum Genet       Date:  1986-07       Impact factor: 11.025

Review 3.  Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature.

Authors:  H A Price; S H Roberts; K M Laurence
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

Review 4.  Paracentric inversions: a review.

Authors:  K Madan
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132

5.  Location of the X inactivation center in primates and other mammals.

Authors:  W L Flejter; D L Van Dyke; L Weiss
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132
  5 in total

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