Literature DB >> 7853376

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

R S Houlston1, R M Renshaw, R S James, R Ironton, I K Temple.   

Abstract

We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q and partial monosomy for 15q (46,XX, -15, tder(15)t(15;16)(q26.1;q22). The consequences of partial aneuploidy of 16q are discussed.

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Year:  1994        PMID： 7853376      PMCID： PMC1016665          DOI： 10.1136/jmg.31.11.884

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


  22 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.  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

4.  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

5.  A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites.

Authors:  J S Beckmann; J Tomfohrde; R I Barnes; M Williams; O Broux; I Richard; J Weissenbach; A M Bowcock
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

6.  Partial trisomy 16q in the son resulting from paternal 16/21 translocation.

Authors:  M Kosanović; L Lopicić; V Diklić; J Nikolis
Journal:  Acta Med Iugosl       Date:  1983

7.  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

8.  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

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.  Partial trisomy 16q in two boys resulting from a maternal translocation, t(15;16)(p12;q11).

Authors:  N C Nevin; W W Coffey; J Nevin; M M Reid
Journal:  Clin Genet       Date:  1983-11       Impact factor: 4.438
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  5 in total

1.  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

2.  Congenital knee dislocation in a 49,XXXXY boy.

Authors:  R H Sijmons; A J van Essen; J D Visser; M Iprenburg; G F Nelck; M L Vos-Bender; B de Jong
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

Review 3.  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

4.  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

5.  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
  5 in total

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