Literature DB >> 6892018

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

E A Keitges, C G Palmer, D D Weaver.   

Abstract

A 21-year-old female dizygotic twin was referred for cytogenetic evaluation because of mild mental retardation. Significant history, clinical, and physical findings included irregular menses, mildly coarse facies, and microcornea. Chromosome analysis revealed a pericentric inversion of the X chromosome, 46, X, inv (X)(p11;q22). Her twin who is phenotypically normal was also found to carry the same inversion. The twins differ significantly in X chromosome inactivation and menstrual cycle function.

Entities:  

Mesh：

Year:  1982        PMID： 6892018     DOI： 10.1007/bf00333520

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


  19 in total

1.  THE LYON-BEUTLER HYPOTHESIS AND ISOCHROMOSOME X PATIENTS WITH TURNER SYNDROME.

Authors:  S M GARTLER; R S SPARKES
Journal:  Lancet       Date:  1963-08-24       Impact factor: 79.321

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

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

3.  High resolution of human chromosomes.

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

4.  Demonstration of replication patterns corresponding to G- and R-type banding of chromosomes after partial synchronization of cell cultures with BrdU or dT surplus.

Authors:  W Schempp; I Sigwarth; W Vogel
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

5.  [Familial incidence of pericentric inversion of X chromosome].

Authors:  E Niebuhr; E Seemanová; F Losan
Journal:  Cesk Pediatr       Date:  1974-05

Review 6.  Dermatoglyphics in medicine--problems and use in suspected chromosome abnormalities.

Authors:  T Reed
Journal:  Am J Med Genet       Date:  1981

7.  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

8.  Follow-up on a human X-autosome translocation first studied in 1963 and 1964.

Authors:  J M Opitz; R I DeMars; S L Inhorn; B R Elejalde
Journal:  Birth Defects Orig Artic Ser       Date:  1978

9.  Comparison of thymidine, fluorodeoxyuridine, hydroxyurea, and methotrexate blocking at the G1/S phase transition of the cell cycle, studied by replication patterns.

Authors:  W Vogel; W Schempp; I Sigwarth
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

10.  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
View more
  7 in total

1.  Rearrangements of the X chromosome and Turner syndrome.

Authors:  M Crocker
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

Review 2.  The critical region on the human Xq.

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

3.  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

4.  Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error.

Authors:  S Schwartz; M F Schwartz; S R Panny; C J Peterson; E Waters; M M Cohen
Journal:  Am J Hum Genet       Date:  1986-05       Impact factor: 11.025

Review 5.  A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion.

Authors:  D P Duckett; I D Young
Journal:  Hum Genet       Date:  1988-07       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

Review 7.  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
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.