Literature DB >> 456386

A girl with an end-to-end fusion of two X'S.

C Stoll, C Lausecker, A Pennerath.   

Abstract

An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.

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Year:  1979        PMID： 456386     DOI： 10.1007/bf00447477

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  17 in total

1.  [A second example of telomeric fusion 2 X chromosomes].

Authors:  J Fraisse; C Laurent; N Collard; M C Biemont; B Dutrillaux
Journal:  Ann Genet       Date:  1975-12

2.  Fusion of the short arms of one X chromosome in a patient with gonadal dysgenesis.

Authors:  U Ruthner; E Golob
Journal:  Humangenetik       Date:  1974

3.  Dicentric human X chromosomes.

Authors:  A De la Chapelle; K Stenstrand
Journal:  Hereditas       Date:  1974       Impact factor: 3.271

4.  Apparently isodicentric but functionally monocentric X chromosome in man.

Authors:  E Therman; G E Sarto; K Patau
Journal:  Am J Hum Genet       Date:  1974-01       Impact factor: 11.025

5.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

6.  X-X translocation in a patient with Turner's syndrome.

Authors:  H Van den Berghe; J P Fryns; C Soyez
Journal:  Humangenetik       Date:  1973-12-20

7.  46, X,X-X terminal rearrangement/45, X mosaicism in a child with short stature.

Authors:  D M Becroft; J M Costello; R L Shaw
Journal:  Clin Genet       Date:  1977-02       Impact factor: 4.438

8.  Ovarian dysgenesis due to 45 X, 0/46 dic (X) mosaicism.

Authors:  L J Valenta; J V Higgins; G B Holzman
Journal:  J Clin Endocrinol Metab       Date:  1977-10       Impact factor: 5.958

9.  [Four new cases of X-autosome translocation in man (author's transl)].

Authors:  C Laurent; M C Biemont; B Dutrillaux
Journal:  Humangenetik       Date:  1975

10.  Duplication deficiency of an X-chromosome with and without 45,X mosaicism in three girls. Cytogenetic, clinical, and hormonal findings.

Authors:  G Schwanitz; H U Tietze; R A Pfeiffer; K P Grosse; H Becker; H Egger
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1977
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  3 in total

1.  The Turner phenotype and the different types of human x isochromosome.

Authors:  P G Otto; A M Vianna-Morgante; P A Otto; A Wajntal
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3).

Authors:  Anna Lisa Nucaro; Paola Melis; Maria Rosaria Casini; Rossano Rossino; Milena Cau; Maria Antonietta Melis; Sandro Loche
Journal:  J Appl Genet       Date:  2008       Impact factor: 3.240

Review 3.  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
  3 in total

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