Literature DB >> 302683

Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome.

T Abe, M Morita, K Kawai, S Misawa, T Takino, H Hashimoto, Y Nakagome.   

Abstract

A 3-year-old boy with partial No. 9 tetrasomy is described. The patient showed markedly retarded physical and mental development as well as multiple congenital anomalies. Routine chromosome analysis revealed an extra C-group chromosome. It had a pronounced secondary constriction at the proximal part of its long arm. Based on studies by a variety of banding techniques, the extra chromosome was identified to be an iso-dicentric No. 9 chromosome with inactivation of one of the two centromeres, the karyotype being 47,XY, + DIC (9)(Q2101). The value of BrdUrd treatment was emphasized in the detection of a very small piece of euchromatin within a long stretch of constitutive heterochromatin.

Entities:  

Mesh：

Year:  1977        PMID： 302683

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  8 in total

1.  Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.

Authors:  Daman Kumari; Bruce Hayward; Asako J Nakamura; William M Bonner; Karen Usdin
Journal:  Mutat Res       Date:  2015-08-30       Impact factor: 2.433

2.  Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations.

Authors:  F Calvieri; C Tozzi; C Benincori; M V De Merulis; A Bellussi; M Genuardi; G Neri
Journal:  Eur J Pediatr       Date:  1988-08       Impact factor: 3.183

3.  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

4.  Duplication of the short arm of chromosome 9. Analysis of five cases.

Authors:  C Cuoco; G Gimelli; F Pasquali; L Poloni; O Zuffardi; P Alicata; G Battaglino; F Bernardi; R Cerone; M Cotellessa; A Ghidoni; S Motta
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  Mosaic tetrasomy 21 in severe mental handicap.

Authors:  J P Fryns; P Petit; L Vinken; J Geutjens; J Marien; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

6.  Tetrasomy 9p confirmed by GALT.

Authors:  P Balestrazzi; G Croci; C Frassi; F Franchi; G Giovannelli
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

7.  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

Review 8.  Distribution of break points in human structural rearrangements.

Authors:  Y Nakagome; T Matsubara; H Fujita
Journal:  Am J Hum Genet       Date:  1983-03       Impact factor: 11.025
  8 in total

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