Literature DB >> 1512000

Uniparental origin of sex chromosome polysomies.

I Lorda-Sanchez1, F Binkert, K G Hinkel, H Moser, W Rosenkranz, M Maechler, A Schinzel.   

Abstract

The parental origin of the additional sex chromosomes in 8 cases with high-order sex chromosome polysomies was determined using DNA polymorphisms. The additional sex chromosomes were paternally derived in 3 48,XXYY cases, and maternal in origin in 1 48,XXXY case and 4 49,XXXXY cases. Thus, all extra chromosomes, within a particular patient, were always derived from only one parent. Their most likely origin was successive nondisjunction at the first and second meiotic division in one germ cell. The mechanism involved remains unclear, but appears to be independent of parental ages.

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Year:  1992        PMID： 1512000     DOI： 10.1159/000154066

Source DB:  PubMed          Journal:  Hum Hered        ISSN： 0001-5652            Impact factor:   0.444


  8 in total

Review 1.  Child health, developmental plasticity, and epigenetic programming.

Authors:  Z Hochberg; R Feil; M Constancia; M Fraga; C Junien; J-C Carel; P Boileau; Y Le Bouc; C L Deal; K Lillycrop; R Scharfmann; A Sheppard; M Skinner; M Szyf; R A Waterland; D J Waxman; E Whitelaw; K Ong; K Albertsson-Wikland
Journal:  Endocr Rev       Date:  2010-10-22       Impact factor: 19.871

Review 2.  48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.

Authors:  Nicole Tartaglia; Natalie Ayari; Susan Howell; Cheryl D'Epagnier; Philip Zeitler
Journal:  Acta Paediatr       Date:  2011-04-08       Impact factor: 2.299

3.  Parental origin of the extra chromosomes in polysomy X.

Authors:  C A Leal; J W Belmont; R Nachtman; J M Cantu; C Medina
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

4.  Multiple origins of X chromosome tetrasomy.

Authors:  W P Robinson; F Binkert; A A Schinzel; S Basaran; R Mikelsaar
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

5.  Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies.

Authors:  Karl Hager; Kori Jennings; Seiyu Hosono; Susan Howell; Jeffrey R Gruen; Scott A Rivkees; Nicole R Tartaglia; Henry M Rinder
Journal:  Int J Pediatr Endocrinol       Date:  2012-04-23

6.  48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.

Authors:  Baha Zantour; Mohamed Habib Sfar; Samia Younes; Wafa Alaya; Mahdi Kamoun; Emna Mkaouar; Saida Jerbi
Journal:  Case Rep Med       Date:  2010-08-17

7.  Adverse pathophysiological influence of early testosterone therapy on the testes of boys with higher grade sex chromosome aneuploidies (HGAs): a retrospective, cross-sectional study.

Authors:  M Spaziani; C Tarantino; C Pozza; A Anzuini; F Panimolle; G Papi; D Gianfrilli; A Lenzi; A F Radicioni
Journal:  J Endocrinol Invest       Date:  2020-10-24       Impact factor: 4.256

8.  A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.

Authors:  Leon Mutesa; Mauricette Jamar; Anne Cecile Hellin; Genevieve Pierquin; Vincent Bours
Journal:  Indian J Hum Genet       Date:  2012-09
  8 in total

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