Literature DB >> 478542

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

J P Fryns, C Parloir, H Van den Berghe.   

Abstract

A 15-year-old deeply mentally retarded male is described with partial distal 17q trisomy (17q22 replaced by 17qter),as the result of a de novo 17q/21p translocation. Differential Ag-staining showed that the satellites of chromosome 21 were included in the translocation chromosome.

Entities:  

Mesh：

Year:  1979        PMID： 478542     DOI： 10.1007/bf00569357

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 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: Satellite staining of human chromosomes.

Authors:  H Eiberg
Journal:  Lancet       Date:  1974-10-05       Impact factor: 79.321

3.  Trisomy of the short arm of chromosome 17.

Authors:  E Latta; J J Hoo
Journal:  Humangenetik       Date:  1974

4.  Partial trisomy 17.

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

5.  Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18.

Authors:  R L Neu; C C Ortega; G A Barg; W Pinto; L I Gardner; W M Howell; T E Denton
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

6.  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
  6 in total
  10 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.  Mosaic partial trisomy 17q2.

Authors:  P A King; A Ghosh; M Tang
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

3.  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

4.  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

5.  Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.

Authors:  J P Fryns; A Kleczkowska; E Kubień; H Van den Berghe
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

6.  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

7.  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

8.  De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.

Authors:  F J Probst; R A James; L C Burrage; J A Rosenfeld; T P Bohan; C H Ward Melver; P Magoulas; E Austin; A I A Franklin; M Azamian; F Xia; A Patel; W Bi; C Bacino; J W Belmont; S M Ware; C Shaw; S W Cheung; S R Lalani
Journal:  Orphanet J Rare Dis       Date:  2015-06-14       Impact factor: 4.123

9.  A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.

Authors:  Jariya Upadia; Joseph B Philips; Nathaniel H Robin; Edward J Lose; Fady M Mikhail
Journal:  Clin Case Rep       Date:  2018-02-14

10.  Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.

Authors:  Julie Coton; Audrey Labalme; Marianne Till; Gerald Bussy; Sonia Krifi Papoz; Gaetan Lesca; Delphine Heron; Damien Sanlaville; Patrick Edery; Vincent des Portes; Massimiliano Rossi
Journal:  Clin Case Rep       Date:  2018-03-09
  10 in total

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