Literature DB >> 7927341

Parental origin of the extra chromosomes in polysomy X.

C A Leal1, J W Belmont, R Nachtman, J M Cantu, C Medina.   

Abstract

Five polymorphic index markers were analyzed by polymerase chain reaction (PCR) to ascertain the parental origin of the extra X chromosomes in seven polysomic cases (one 49,XXXXX, three 49,XXXXY, two 48,XXXY, and one 48,XXYY). All four X chromosomes in 49, X polysomies were maternal in origin and the extra X chromosomes in 48 X polysomies were paternal. In each case the multiple X chromosomes were contributed by a single parent. Taken together with previously reported cases, these data support a single mechanism of sequential nondisjunction during either maternal or paternal gametogenesis as the cause of higher order sex chromosome polysomy.

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Year:  1994        PMID: 7927341     DOI: 10.1007/bf00201605

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


  20 in total

1.  Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences.

Authors:  T H Huang; F Greenberg; D H Ledbetter
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

2.  Analysis of non-disjunction in sex chromosome tetrasomy and pentasomy.

Authors:  T Hassold; D Pettay; K May; A Robinson
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

3.  Origin of the X chromosomes in a patient with the 49,XXXXY syndrome.

Authors:  D S Plaha; D P Duckett; R A Collacott; I D Young
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

4.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

5.  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

6.  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

7.  Origin of 48,XXXY: the evidence of the Xg blood groups.

Authors:  R A Pfeiffer; R Sanger
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

8.  Xg groups and sex abnormalities in people of northern European ancestry.

Authors:  R Sanger; P Tippett; J Gavin
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

9.  Dinucleotide repeat polymorphism in the human CD40 ligand gene.

Authors:  R C Allen; M K Spriggs; J W Belmont
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

10.  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

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  8 in total

Review 1.  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

2.  Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21.

Authors:  V M Park; R R Bravo; L P Shulman
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

3.  49,XXXXY: a distinct phenotype. Three new cases and review.

Authors:  J Peet; D D Weaver; G H Vance
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

4.  A new look at XXYY syndrome: medical and psychological features.

Authors:  Nicole Tartaglia; Shanlee Davis; Alison Hench; Sheela Nimishakavi; Renee Beauregard; Ann Reynolds; Laura Fenton; Lindsey Albrecht; Judith Ross; Jeannie Visootsak; Robin Hansen; Randi Hagerman
Journal:  Am J Med Genet A       Date:  2008-06-15       Impact factor: 2.802

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.  Allele quantification using molecular inversion probes (MIP).

Authors:  Yuker Wang; Martin Moorhead; George Karlin-Neumann; Matthew Falkowski; Chunnuan Chen; Farooq Siddiqui; Ronald W Davis; Thomas D Willis; Malek Faham
Journal:  Nucleic Acids Res       Date:  2005-11-28       Impact factor: 16.971

7.  Brain and behavior in 48, XXYY syndrome.

Authors:  Alli P Hanley; Jonathan D Blumenthal; Nancy Raitano Lee; Eva H Baker; Liv S Clasen; Jay N Giedd
Journal:  Neuroimage Clin       Date:  2015-04-15       Impact factor: 4.881

8.  An infant with 49XXXXY syndrome: a case report.

Authors:  N P G C R Naotunna; C Liyanage; N Atapattu
Journal:  J Med Case Rep       Date:  2021-12-30
  8 in total

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