Literature DB >> 1551683

A 20-year-old male with partial trisomy 18q- as diagnosed by in situ hybridization.

C H Gravholt, U Friedrich, J Nielsen.   

Abstract

Mesh：

Year:  1992        PMID： 1551683     DOI： 10.1007/bf02265309

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


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  8 in total

Review 1.  Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18.

Authors:  G N Wilson; K B Heller; R D Elterman; N R Schneider
Journal:  Am J Med Genet       Date:  1990-08

2.  A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogenetics.

Authors:  O Bartsch; E Schwinger
Journal:  Clin Genet       Date:  1991-07       Impact factor: 4.438

3.  Inversion 19 and isochromosome short arm 17 or 18.

Authors:  J Nielsen; A Homma; V Holm
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

4.  Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21.

Authors:  P Devilee; T Cremer; P Slagboom; E Bakker; H P Scholl; H D Hager; A F Stevenson; C J Cornelisse; P L Pearson
Journal:  Cytogenet Cell Genet       Date:  1986

5.  Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).

Authors:  F Binkert; J Stranzinger; A Schinzel
Journal:  Hum Hered       Date:  1990       Impact factor: 0.444

6.  Trisomy 18 in a 13 year old girl.

Authors:  L Mehta; R S Shannon; D P Duckett; I D Young
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

7.  Partial trisomy of chromosome 18 (pter leads to q11): a discussion on the identification of the critical segment.

Authors:  V San Martin; C Fernandez-Novoa; A Hevia; A Novales; J Fornell; H Galera
Journal:  Ann Genet       Date:  1981

8.  Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18.

Authors:  R W Marion; D Chitayat; R G Hutcheon; J A Neidich; E H Zackai; L P Singer; M Warman
Journal:  J Pediatr       Date:  1988-07       Impact factor: 4.406
  8 in total

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