Literature DB >> 1773534

Absence of predictable phenotypic expression in proximal 15q duplications.

C J Ludowese1, K J Thompson, G S Sekhon, R M Pauli.   

Abstract

We describe ten individuals with an insertional duplication 15q12----q13. Phenotypic analysis of these individuals and 15 previously reported cases of proximal 15q duplications fails to show any consistent clinical manifestations. It appears that a duplication of this region is phenotypically silent.

Mesh：

Year:  1991        PMID： 1773534     DOI： 10.1111/j.1399-0004.1991.tb03076.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  High resolution comparative genomic hybridisation in clinical cytogenetics.

Authors:  M Kirchhoff; H Rose; C Lundsteen
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

Authors:  C Mignon; F Parente; C Stavropoulou; P Collignon; A Moncla; C Turc-Carel; M G Mattei
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

3.  Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

Authors:  C E Browne; N R Dennis; E Maher; F L Long; J C Nicholson; J Sillibourne; J C Barber
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

Review 4.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

5.  A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome.

Authors:  I Kennerknecht
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132
  5 in total

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