Literature DB >> 1605261

Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature.

C Léonard1, J L Huret, M C Imbert, Y Lebouc, J Selva, A M Boulley.   

Abstract

We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3:1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random.

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Mesh：

Year:  1992        PMID： 1605261     DOI： 10.1002/ajmg.1320430324

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

1.  Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

Authors:  E Holinski-Feder; E Reyniers; S Uhrig; A Golla; J Wauters; P Kroisel; P Bossuyt; I Rost; K Jedele; H Zierler; S Schwab; D Wildenauer; M R Speicher; P J Willems; T Meitinger; R F Kooy
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including GNG13 and SOX8 Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype?

Authors:  R P Erickson; S A Yatsenko; K Larson; S W Cheung
Journal:  Mol Syndromol       Date:  2010-11-13

3.  16p subtelomeric duplication: a clinically recognizable syndrome.

Authors:  Maria Cristina Digilio; Laura Bernardini; Anna Capalbo; Rossella Capolino; Maria Giulia Gagliardi; Bruno Marino; Antonio Novelli; Bruno Dallapiccola
Journal:  Eur J Hum Genet       Date:  2009-03-18       Impact factor: 4.246

4.  Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier.

Authors:  C A Brandt; T Lyngbye; S Pedersen; L Bolund; U Friedrich
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

5.  "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.

Authors:  C L Martin; D J Waggoner; A Wong; S Uhrig; J A Roseberry; J F Hedrick; S D Pack; K Russell; E Zackai; W B Dobyns; D H Ledbetter
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

Review 6.  Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

Authors:  Brian P Brooks; Jeanne M Meck; Bassem R Haddad; Claude Bendavid; Delphine Blain; Jeffrey A Toretsky
Journal:  BMC Med Genet       Date:  2006-01-13       Impact factor: 2.103

7.  16p subtelomeric duplication with vascular anomalies: an Albanian case report and literature review.

Authors:  A Babameto-Laku; V Mokini; N Kuneshka; S Sallabanda; Z Ylli
Journal:  Balkan J Med Genet       Date:  2012-12       Impact factor: 0.519

8.  De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

Authors:  Eva Maria Christina Schwaibold; Iris Bartels; Helmut Küster; Michael Lorenz; Peter Burfeind; Ronja Adam; Barbara Zoll
Journal:  Mol Cytogenet       Date:  2014-01-23       Impact factor: 2.009

Review 9.  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

10.  Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications.

Authors:  Denise M Christofolini; Flavia B Piazzon; Carolina Evo; Fernanda A Mafra; Stella R Cosenza; Alexandre T Dias; Caio P Barbosa; Bianca Bianco; Leslie D Kulikowski
Journal:  Mol Cytogenet       Date:  2014-04-24       Impact factor: 2.009
  10 in total

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