Literature DB >> 7358382

Trisomy 16q21 = to qter.

A Garau, G Crisponi, D Peretti, R Vanni, O Zuffardi.   

Abstract

A case of trisomy 16q secondary to a paternal 16/18 translocation is described. A comparison of this case with the few other cases of trisomy 16q described in the literature indicates that trisomy for the long arm of chromosome 16 results in a severely affected phenotype and early death. Conversely, patient with trisomy 16p do not have gross abnormalities. We postulate that the prenatal lethality of full trisomy 16 is mainly due to the trisomy for the long arm.

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Year:  1980        PMID： 7358382     DOI： 10.1007/bf00273489

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


  11 in total

1.  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

2.  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

3.  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

4.  Chromosome constitution of 500 infants dying during the perinatal period. With an appendix concerning other genetic disorders among these infants.

Authors:  G A Machin; J A Crolla
Journal:  Humangenetik       Date:  1974

5.  Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.

Authors:  U Francke
Journal:  Am J Hum Genet       Date:  1972-03       Impact factor: 11.025

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.  A ring chromosome No. 16 in an infant with primary hypoparathyroidism.

Authors:  E Pergament; G C Pietra; T Kadotani; H Sato; S Berlow
Journal:  J Pediatr       Date:  1970-05       Impact factor: 4.406

8.  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

9.  Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects. Madison blind study IV.

Authors:  N C Magnelli
Journal:  Clin Genet       Date:  1976-02       Impact factor: 4.438

10.  Tertiary trisomy, 47,XX,+14q--, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24).

Authors:  S R Young; D M Donovan; H A Greer; K Burch; D C Potter
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132
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  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

Review 2.  Familial translocation t(9;16).

Authors:  C Dowman; D Lockwood; J Allanson
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

3.  Partial trisomy 16q secondary to a maternal 9;16 translocation.

Authors:  M L Lessick; J Israel; P W Wong; K Szego
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

4.  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

5.  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

6.  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

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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