Literature DB >> 3976720

Brief clinical report: non-mosaic partial tetrasomy and partial trisomy 9.

S D Shapiro, K L Hansen, C A Littlefield.   

Abstract

Partial tetrasomy 9 is a very rare chromosome abnormality. Of the reported cases, most have had tetrasomy only of 9p arising from the formation of an isochromosome. In addition, mosaicism was found in five of the 12 previous cases. We report on a case of non-mosaic partial tetrasomy 9 involving all of the short arms and asymmetrical segments of the long arms.

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Year:  1985        PMID: 3976720     DOI: 10.1002/ajmg.1320200210

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  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

2.  Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.

Authors:  F A Eggerding; S A Schonberg; F F Chehab; M E Norton; V A Cox; C J Epstein
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

3.  9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus.

Authors:  Charuta Furey; Prince Antwi; Daniel Duran; Andrew T Timberlake; Carol Nelson-Williams; Charles C Matouk; Michael L DiLuna; Murat Günel; Kristopher T Kahle
Journal:  Cold Spring Harb Mol Case Stud       Date:  2018-10-01
  3 in total

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