Literature DB >> 560352

The 48, XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy.

B Kaluzewski, D Podkul, I Zaborowska, T Moruzgala, L Jakubowski.   

Abstract

A 3-year-old boy from twin pregnancy with the features of marked dystrophia from birth, deficient growth, considerable retardation of physical and mental development, numerous somatic defects, suspected congenital heart disease, and hypoplastic external genitalia, is reported. The 48,XXXX/49,XXXXY/49,XXXX,i(Yq) karyotype was diagnosed. The boy's brother, normally developed, had a 46,XY karyotype. It was found on the basis of serologic findings that the brothers were dizygotic twins.

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Year:  1977        PMID: 560352     DOI: 10.1007/bf00393620

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


  7 in total

1.  Isochromosome Y (46,X,i(Yq)) and female phenotype.

Authors:  J A Böök; B Eilon; I Halbrecht; L Komlos; F Shabtay
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

2.  [XXXXY phenotype: synthetic and analytic study of 3 personal cases and 67 other cases in the literature].

Authors:  A Tumba
Journal:  J Genet Hum       Date:  1972-03

3.  Isochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi).

Authors:  M A Ferguson-Smith; E Boyd; M E Ferguson-Smith; J G Pritchard; A F Yusuf; B Gray
Journal:  J Med Genet       Date:  1969-12       Impact factor: 6.318

4.  Xg and sex-chromosome abnormalities.

Authors:  R R Race; R Sanger
Journal:  Br Med Bull       Date:  1969-01       Impact factor: 4.291

5.  Studies on the structure-fluorescence relationships of chromatin-bound 9-amino acridine derivatives.

Authors:  J Limon; M Babińska; A Ledóchowski
Journal:  Exp Cell Res       Date:  1975-05       Impact factor: 3.905

Review 6.  [The XXXXY syndrome. Report of 7 new cases and review of the literature (author's transl)].

Authors:  H G Terheggen; R A Pfeiffer; H Haug; W Schünke
Journal:  Z Kinderheilkd       Date:  1973-10-01

7.  Structural abnormalities of the Y chromosome in man.

Authors:  P A Jacobs; A Ross
Journal:  Nature       Date:  1966-04-23       Impact factor: 49.962

  7 in total
  2 in total

Review 1.  Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Authors:  R M Davis
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

2.  Epiphysial dysplasia: a constant finding in the XXXXY syndrome.

Authors:  R Schmidt; M Pajewski; M Rosenblatt
Journal:  J Med Genet       Date:  1978-08       Impact factor: 6.318

  2 in total

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