Literature DB >> 490587

Trisomy 16q arising from a maternal 15p;16q translocation.

M A Ridler, J A McKeown.   

Abstract

Trisomy 16q is reported in a malformed infant who died at 12 days of age. The karyotype was 46,XX,der(15)t(15;16) (p11;q11)mat. A balanced translocation was found in the mother. The consequences of various types of aneuploidy of chromosome 16 are discussed.

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Year:  1979        PMID： 490587      PMCID： PMC1012679          DOI： 10.1136/jmg.16.4.317

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


  7 in total

1.  A cytogenetic study of human spontaneous abortions using banding techniques.

Authors:  M R Creasy; J A Crolla; E D Alberman
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

2.  16q trisomy in a family with a balanced 15/16 translocation.

Authors:  R Schmickel; A Poznanski; J Himebaugh
Journal:  Birth Defects Orig Artic Ser       Date:  1975

3.  Partial trisomy 16q-.

Authors:  E Yunis; J T González; O M Torres de Caballero
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

4.  Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21).

Authors:  J P Fryns; S Melchoir; J Jaeken; H van den Berghe
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

5.  Prune belly syndrome.

Authors:  L M Harley; Y Chen; W H Rattner
Journal:  J Urol       Date:  1972-07       Impact factor: 7.450

6.  Structural abnormalities of chromosome 18. II. Two familial translocations, B-18 and 16-18, ascertained through unbalanced forms.

Authors:  B Eriksson; M Fraccaro; M Hultén; J Lindsten; C Thorén; L Tiepolo
Journal:  Ann Genet       Date:  1971-12

7.  Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16.

Authors:  S H Roberts; D P Duckett
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318
  7 in total
  9 in total

Review 1.  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

2.  Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.

Authors:  R S Houlston; R M Renshaw; R S James; R Ironton; I K Temple
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

3.  Trisomy 16q13----qter in a infant from a t(11;16)(q25;q13) translocation-carrier father.

Authors:  K Hatanaka; M Ozaki; M Suzuki; R Murata; H Fujita
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Ring chromosome 16.

Authors:  L Neidengard; R S Sparkes
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study.

Authors:  Linda van den Berg; Henriette Delemarre-van de Waal; Joan C Han; Bauke Ylstra; Paul Eijk; Maria Nesterova; Peter Heutink; Constantine A Stratakis
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

6.  Partial trisomy 16 as a result of familial 16;20 translocation.

Authors:  E V Davison; J R Beesley
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

Review 7.  Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.

Authors:  R Mishra; C S Paththinige; N D Sirisena; S Nanayakkara; U G I U Kariyawasam; V H W Dissanayake
Journal:  BMC Pediatr       Date:  2018-01-08       Impact factor: 2.125

8.  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

9.  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
  9 in total

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