Literature DB >> 2671373

Familial translocation t(9;16).

C Dowman1, D Lockwood, J Allanson.   

Abstract

We report a female with a deletion of 9p and concomitant duplication of 16q [46,XX,-9,+der(9),t(9;16)(p24;q13)]. Parental chromosome analysis showed a balanced maternal translocation [46,XX,t(9;16)(p24;q13)]. Three other cases of translocations involving chromosomes 9 and 16 have been reported, one of them with identical breakpoints. A review of published reports of deletion 9p and duplication 16q is presented, and a comparison is made with previously described cases.

Mesh:

Year:  1989        PMID: 2671373      PMCID: PMC1015677          DOI: 10.1136/jmg.26.8.525

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


  4 in total

Review 1.  Eleven new cases of del(9p) and features from 80 cases.

Authors:  J L Huret; C Leonard; B Forestier; M O Rethoré; J Lejeune
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

2.  Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.

Authors:  O Alfi; G N Donnell; B F Crandall; A Derencsenyi; R Menon
Journal:  Ann Genet       Date:  1973-03

3.  Trisomy 16q21 = to qter.

Authors:  A Garau; G Crisponi; D Peretti; R Vanni; O Zuffardi
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

4.  Partial trisomy for long arm of chromosome 16.

Authors:  K E Buckton; D G Barr
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

  4 in total
  4 in total

1.  Three cases of 16q duplication.

Authors:  E R Maher; L Willatt; G Cuthbert; C Chapman; S V Hodgson
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

Review 2.  Trisomy 16q23----qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique.

Authors:  J B Savary; F Vasseur; S Manouvrier; A Daudignon; O Lemaire; M Thieuleux; M Poher; P Lequien; M M Deminatti
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

3.  Partial trisomy 16q and partial monosomy 7p of a fetus derivated from paternal balanced translocation: A case report.

Authors:  Hui-Hui Xie; Tong Liu; Jing-Bo Zhang; Jing-Fang Zhai; Ying Liu
Journal:  Medicine (Baltimore)       Date:  2021-02-19       Impact factor: 1.817

4.  A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.

Authors:  Joshua Manor; Daniela Dinu; Mahshid S Azamian; Weimin Bi; Sandra Darilek; Seema R Lalani
Journal:  Am J Med Genet A       Date:  2021-06-01       Impact factor: 2.578

  4 in total

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