Literature DB >> 2966860

De novo partial trisomy 15q (proximal type).

T J Herweijer1, J W Oorthuys, N J Leschot.   

Abstract

This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15.

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Year:  1988        PMID： 2966860      PMCID： PMC1015510          DOI： 10.1136/jmg.25.4.260

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  19 in total

1.  An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.

Authors:  M M Cohen; A Ornoy; A Rosenmann; G Kohn
Journal:  Ann Genet       Date:  1975-06

2.  A G-like trisomy with a major 15 proximal supernumerary component derived from a D/E balanced maternal interchange.

Authors:  D L Bannister; E Engel
Journal:  J Pediatr       Date:  1975-06       Impact factor: 4.406

3.  Partial D 15 trisomy. A case and general review.

Authors:  W R Centerwall; J P Morris
Journal:  Hum Hered       Date:  1975       Impact factor: 0.444

4.  Partial trisomy 15q1.

Authors:  R A Pfeiffer; E Kessel
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

5.  Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15.

Authors:  R R Schreck; W R Breg; B F Erlanger; O J Miller
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132

6.  [Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21].

Authors:  M O Rethoré; B Dutrillaux
Journal:  Ann Genet       Date:  1973-12

7.  A case of partial trisomy 15.

Authors:  E J Watson; R R Gordon
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

8.  Cyclophosphamide therapy in adults with minimal-change nephrotic syndrome.

Authors:  P R Uldall; T G Feest; A R Morley; B E Tomlinson; D N Kerr
Journal:  Lancet       Date:  1972-06-10       Impact factor: 79.321

9.  Partial trisomy of chromosome number 15 identified by trypsin-Giemsa banding.

Authors:  B F Crandall; H M Muller; H N Bass
Journal:  Am J Ment Defic       Date:  1973-03

10.  The human gene map 1 December 1984.

Authors:  V A McKusick
Journal:  Clin Genet       Date:  1985-02       Impact factor: 4.438
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  2 in total

1.  Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis.

Authors:  K Mangelschots; B Van Roy; F Speleman; N Van Roy; J Gheuens; J Beuten; I Buntinx; M N Van Thienen; H Willekens; J Dumon
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

2.  Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation.

Authors:  Shilpy Singla; Kausik Mandal; Suvasini Sharma; Viswas Chhapola
Journal:  J Pediatr Neurosci       Date:  2014-05
  2 in total

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