Literature DB >> 6748023

Mosaic hexasomy 21.

A Ketupånyå, B F Crandåll, K Blanchard, D W Rogers.   

Abstract

Cases in which there are more than three copies of a sex chromosome, and rarely of an autosome, have been reported, but to our knowledge hexasomy has never been described except in tissue undergoing neoplastic change. This report describes a female infant with multiple malformations in whom we found a mosaic hexasomy 21. This was first detected in amniotic fluid cells and subsequently in skin fibroblasts.

Entities:  

Mesh：

Year:  1984        PMID： 6748023      PMCID： PMC1049275          DOI： 10.1136/jmg.21.3.228

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  A gene for hypospadias in a child with presumed tetrasomy 18p.

Authors:  G B Côté; S Petmezaki; N Bastakis
Journal:  Am J Med Genet       Date:  1979

2.  Tetrasomy 21 in an infant with Down syndrome and congenital leukemia.

Authors:  E W Jabs; J Stamberg; C O Leonard
Journal:  Am J Med Genet       Date:  1982-05

3.  Mosaic tetrasomy 21 in a liveborn male infant.

Authors:  A G Hunter; B Clifford; M Speevak; S B MacMurray
Journal:  Clin Genet       Date:  1982-04       Impact factor: 4.438

4.  A cytogenetic study of 1000 spontaneous abortions.

Authors:  T Hassold; N Chen; J Funkhouser; T Jooss; B Manuel; J Matsuura; A Matsuyama; C Wilson; J A Yamane; P A Jacobs
Journal:  Ann Hum Genet       Date:  1980-10       Impact factor: 1.670

5.  Tetrasomy 9p: confirmation by enzyme analysis.

Authors:  S J Moedjono; B F Crandall; R S Sparkes
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

6.  The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors:  A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  6 in total
  2 in total

Review 1.  Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

Authors:  E M Kuhn; G E Sarto; B J Bates; E Therman
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

2.  Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Authors:  Vincent Gatinois; Nicole Bigi; Eve Mousty; Jean Chiesa; Yuri Musizzano; Anouck Schneider; Geneviève Lefort; Lucile Pinson; Jean-Baptiste Gaillard; Clémence Ragon; Marie-Josée Perez; Magali Tournaire; Patricia Blanchet; Carole Corsini; Emmanuelle Haquet; Patrick Callier; David Geneviève; Franck Pellestor; Jacques Puechberty
Journal:  Mol Genet Genomic Med       Date:  2019-09-07       Impact factor: 2.183
  2 in total

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