Literature DB >> 468254

Partial trisomy 16q resulting from maternal translocation.

P Balestrazzi, G Giovannelli, L Landucci Rubini, B Dallapiccola.   

Abstract

A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation is described. Karyotype: 46,XY,--22,der(22),t(16;22)(q21;p12)mat.

Mesh：

Year:  1979        PMID： 468254     DOI： 10.1007/bf00277648

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


  6 in total

1.  [Identification by Q and G bands of chromosome anomalies in spontaneous abortion].

Authors:  J Boué; M J Daketsé; C Deluchat; N Ravisé; F Yvert; A Boué
Journal:  Ann Genet       Date:  1976-12

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.  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

6.  Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.

Authors:  L M Stern; A R Mureh
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318
  6 in total
  6 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

Review 4.  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

5.  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

6.  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
  6 in total

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