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Literature DB >> 1673956

Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs.

H X Deng¹, K Abe, I Kondo, M Tsukahara, H Inagaki, I Hamada, Y Fukushima, N Niikawa.

Abstract

The parental origin and mechanism of formation of polysomy X were studied in five cases (one case of 49,XXXXX; four cases of 49,XXXXY), using various X-linked restriction fragment length polymorphisms as genetic markers. Segregation and densitometric analyses on the polymorphic DNA fragments revealed that, in all five cases, the additional X chromosomes are of maternal origin and the mechanism of formation is most probably a result of three non-disjunctions during maternal meiotic divisions: once at the first meiosis and simultaneously twice at the second meiosis. The identical origin and the identical mechanism of formation among the five cases are unlikely to be coincidental and suggest a common cause in the mothers of the five cases.

Mesh：

Year: 1991 PMID： 1673956 DOI： 10.1007/bf00201538

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

14 in total

1. Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes.

Authors: P A Jacobs; T J Hassold; E Whittington; G Butler; S Collyer; M Keston; M Lee
Journal: Ann Hum Genet Date: 1988-05 Impact factor: 1.670

2. The parental origin of the extra X chromosome in 47,XXX females.

Authors: K M May; P A Jacobs; M Lee; S Ratcliffe; A Robinson; J Nielsen; T J Hassold
Journal: Am J Hum Genet Date: 1990-04 Impact factor: 11.025

3. Parental origin of chromosomal nondisjunction in a 49,XXXXY male using recombinant-DNA techniques.

Authors: M Villamar; J Benitez; E Fernández; C Ayuso; C Ramos
Journal: Clin Genet Date: 1989-09 Impact factor: 4.438

4. Cytogenetic and molecular analysis of sex-chromosome monosomy.

Authors: T Hassold; F Benham; M Leppert
Journal: Am J Hum Genet Date: 1988-04 Impact factor: 11.025

5. On the origin of chromosome anomaly.

Authors: R E Magenis
Journal: Am J Hum Genet Date: 1988-04 Impact factor: 11.025

6. Origin of nondisjunction in trisomy 21 syndrome: all studies compiled, parental age analysis, and international comparisons.

Authors: R C Juberg; P N Mowrey
Journal: Am J Med Genet Date: 1983-09

7. Evidence for genetic control of nondisjunction in man.

Authors: O S Alfi; R Chang; S P Azen
Journal: Am J Hum Genet Date: 1980-07 Impact factor: 11.025

Review 8. Penta X syndrome: a case report with review of the literature.

Authors: R Kassai; I Hamada; H Furuta; K Cho; K Abe; H X Deng; N Niikawa
Journal: Am J Med Genet Date: 1991-07-01

9. X-chromosome polysomy in the male. The Leuven experience 1966-1987.

Authors: A Kleczkowska; J P Fryns; H Van den Berghe
Journal: Hum Genet Date: 1988-09 Impact factor: 4.132

10. Origin of extra chromosome in Patau syndrome.

Authors: S Ishikiriyama; N Niikawa
Journal: Hum Genet Date: 1984 Impact factor: 4.132

8 in total

1. Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2.

Authors: N Niikawa; H X Deng; K Abe; N Harada; T Okada; H Tsuchiya; I Akaboshi; I Matsuda; Y Fukushima; Y Kaneko
Journal: Hum Genet Date: 1991-09 Impact factor: 4.132

2. 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

3. Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region.

Authors: L Schibler; E P Cribiu; A Oustry-Vaiman; J P Furet; D Vaiman
Journal: Genome Res Date: 2000-03 Impact factor: 9.043