Literature DB >> 1083191

Identification of isochromosome 17 in a girl with mental retardation and congenital malformations.

F Salamanca-Gómez, S Armendares.   

Abstract

An isochromosome 17 was found in all analyzed cells of a mentally retarded and malformed girl. As the abnormal chromosome displayed a polymorphic distal band also observed in chromosome 17 of the father, it is suggested that the abnormal chromosome is the result of a non sister chromatid interchange at the level of the centromeric region of chromosomes 17 in paternal meiosis.

Entities:  

Mesh：

Year:  1975        PMID： 1083191

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


  6 in total

1.  A case of partial trisomy 17 resulting from X-autosomal translocation.

Authors:  Y Yamamoto; Y Endo; Y Kuroki
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318

2.  Pure trisomy 17p in 60% cells.

Authors:  F Shabtai; A Shalev; J Chemke; I Halbrecht; E Elian
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

3.  Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.

Authors:  L M Larson; W A Wasdahl; J H Saumur; M L Coleman; S M Jalal
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318

4.  Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13).

Authors:  J P Fryns; C Parloir; H Van den Berghe
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

5.  A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23).

Authors:  D J Shawe; C Fear; W J Appleyard
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

6.  A new case of partial trisomy of 17 long arm. Densitometric analysis of aberrations.

Authors:  B Parcheta; W Skawiński; L Wiśniewski; E Piontek; A Gutkowska; K Wermeński
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183
  6 in total

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