Literature DB >> 6698553

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

K Hatanaka, M Ozaki, M Suzuki, R Murata, H Fujita.   

Abstract

A female infant with 16q trisomy resulting from a paternally inherited balanced translocation is described and compared with five previously reported cases. All the babies were of low birth weight and expired within 1 year, with only one exception. Necropsy of the present case revealed atrial septal defect, single left lobe of the lung, anomalous lobulation of the liver, agenesis of the gall bladder, and anovestibular fistula.

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Year:  1984        PMID： 6698553     DOI： 10.1007/bf00286525

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


  10 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 resulting from maternal translocation.

Authors:  P Balestrazzi; G Giovannelli; L Landucci Rubini; B Dallapiccola
Journal:  Hum Genet       Date:  1979-06-19       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 16q21 = to qter.

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

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

Authors:  M A Ridler; J A McKeown
Journal:  J Med Genet       Date:  1979-08       Impact factor: 6.318

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
  10 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.  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

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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