Literature DB >> 3987734

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

B Parcheta, W Skawiński, L Wiśniewski, E Piontek, A Gutkowska, K Wermeński.   

Abstract

Partial trisomy of the long arm of the chromosome 17 was found in a male infant with severe psychomotor retardation and numerous developmental anomalies. Differential staining with GTG, QFQ and CBG methods revealed an excess of genetic material on the short arm of chromosome 14, which was preliminarily identified as the distal part of chromosome 17q. Using an automatic picture analyser, chromosome break points were found in the 17q12 and 14p12 bands. The patient's karyotype was identified as 46,XY,t(14;17) (14qter----14p12:17q12----17qter).

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Year:  1985        PMID: 3987734     DOI: 10.1007/bf00442311

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  10 in total

1.  An extra small metacentric chromosome identified as a deleted chromosome no. 17.

Authors:  W Palutke; H Chen; P Woolley; C Espiritu; H L Vogel; N Gohle; M Tyrkus
Journal:  Clin Genet       Date:  1976-05       Impact factor: 4.438

2.  Letter: Trisomy in abortion material.

Authors:  T Kajii; N Niikawa; A Ferrier; H Takahara
Journal:  Lancet       Date:  1973-11-24       Impact factor: 79.321

3.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

4.  Identification of human chromosomes by DNA-binding fluorescent agents.

Authors:  T Caspersson; L Zech; C Johansson; E J Modest
Journal:  Chromosoma       Date:  1970       Impact factor: 4.316

5.  The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1972       Impact factor: 4.316

6.  Partial trisomy 17.

Authors:  B Biederman
Journal:  Clin Genet       Date:  1977-01       Impact factor: 4.438

7.  Polymorphism of the human Y chromosome: the evaluation of the correlation between the DNA content and the size of the heterochromatin and euchromatin.

Authors:  W Skawiński; B Parcheta
Journal:  Clin Genet       Date:  1984-02       Impact factor: 4.438

8.  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

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

Authors:  F Salamanca-Gómez; S Armendares
Journal:  Ann Genet       Date:  1975-12

10.  Brief clinical report: an infant with duplication of 17q21 lead to 17qter.

Authors:  J U Gallien; R L Neu; R J Wynn; N Steinberg-Warren; R M Bannerman
Journal:  Am J Med Genet       Date:  1981
  10 in total
  3 in total

Review 1.  Sibs lacking characteristic features of duplication of distal 17q.

Authors:  S Ohdo; H Madokoro; T Sonoda; K Ohba
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

2.  Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.

Authors:  A Serotkin; J Stamberg; L Waber
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318

3.  Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome.

Authors:  A M Butt; D Mehta; J A Goodeve; F A Flinter
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

  3 in total

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