Literature DB >> 1269167

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

W Palutke, H Chen, P Woolley, C Espiritu, H L Vogel, N Gohle, M Tyrkus.   

Abstract

In an 11-year-old girl with multiple congenital abnormalities and mental retardation, an extra, small, metacentric chromosome was identified by banding methods as a deleted chromosome No. 17. This represents the first reported case of partial trisomy 17.

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Mesh：

Year:  1976        PMID： 1269167     DOI： 10.1111/j.1399-0004.1976.tb01596.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  10 in total

1.  Extra small metacentric chromosome identified as i(18p).

Authors:  M Rocchi; M Stormi; N Archidiacono; G Filippi
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

2.  Forty four probands with an additional "marker" chromosome.

Authors:  K E Buckton; G Spowart; M S Newton; H J Evans
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  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

4.  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

5.  De novo tandem duplication 17p11 leads to cen.

Authors:  Z Docherty; M A Hultén; M M Honeyman
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

6.  Failure of X inactivation in the autosomal segment of an X/A translocation.

Authors:  C G Palmer; T W Hubbard; G W Henry; D D Weaver
Journal:  Am J Hum Genet       Date:  1980-03       Impact factor: 11.025

7.  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

8.  A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.

Authors:  K S Reddy; M B Larsen
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

9.  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

10.  Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome.

Authors:  K B Nielsen; H Dyggve; U Friedrich; N Hobolth; T Lyngbye; M Mikkelsen
Journal:  Hum Genet       Date:  1978-10-19       Impact factor: 4.132
  10 in total

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