Literature DB >> 6977307

9p duplication confirmed by gene dosage effect: report of two patients.

T M Zadeh, S J Funderburk, R Carrel, K W Dumars.   

Abstract

We report two cases duplication of 9p. This investigation was prompted by the identification of two patients with minor congenital anomalies and mental retardation. Chromosomal karyotype in both patients revealed 9p duplication, one as a result of tandem duplication of 9p at band p13 leads to p24 and the other due to an extra and deleted chromosome number 9 (pter leads to cent leads to q13). Both patients has elevated galactose-1-phosphate-uridyl-transferase level demonstrating additional evidence for mapping GALT on the short arm of chromosome 9.

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Year:  1981        PMID： 6977307

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


  3 in total

1.  Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).

Authors:  B R Haddad; A E Lin; H Wyandt; A Milunsky
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

2.  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

3.  A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.

Authors:  Khaled K Abu-Amero; Ali M Hellani; Mustafa A Salih; Mohammad Z Seidahmed; Tageldin S Elmalik; Ghassan Zidan; Thomas M Bosley
Journal:  BMC Med Genet       Date:  2010-09-21       Impact factor: 2.103
  3 in total

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