Literature DB >> 16179230

Narrowing the deleted region associated with the 15q21 syndrome.

Tiziano Pramparo1, Teresa Mattina, Stefania Gimelli, Thomas Liehr, Orsetta Zuffardi.   

Abstract

Interstitial deletions of chromosome 15q, not involving the PWS/AS region, are uncommon and poorly characterized. Few cases defined at the cytogenetic level have been reported with 15q21 deletions and characteristic facial dysmorphisms are present in all them. We report on the molecular characterization by array-CGH of a new patient with a 15q21 deletion and on the redefinition of a second patient previously studied with multicolor banding. The two deletions resulted to be similar and involve about 12 and 8 Mb, respectively. Our study might promote to delineate a better genotype-phenotype correlation associated with 15q21 deletions.

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Year:  2005        PMID: 16179230     DOI: 10.1016/j.ejmg.2005.04.012

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  5 in total

1.  Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice.

Authors:  Jian-Hua Zhang; Mritunjay Pandey; Erica M Seigneur; Leelamma M Panicker; Lily Koo; Owen M Schwartz; Weiping Chen; Ching-Kang Chen; William F Simonds
Journal:  J Neurochem       Date:  2011-09-23       Impact factor: 5.372

2.  The clinical spectrum of complete FBN1 allele deletions.

Authors:  Yvonne Hilhorst-Hofstee; Ben C J Hamel; Joke B G M Verheij; Marry E B Rijlaarsdam; Grazia M S Mancini; Jan M Cobben; Cindy Giroth; Claudia A L Ruivenkamp; Kerstin B M Hansson; Janneke Timmermans; Henriette A Moll; Martijn H Breuning; Gerard Pals
Journal:  Eur J Hum Genet       Date:  2010-11-10       Impact factor: 4.246

3.  Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.

Authors:  Gábor Mátyás; Sira Alonso; Andrea Patrignani; Myriam Marti; Eliane Arnold; István Magyar; Caroline Henggeler; Thierry Carrel; Beat Steinmann; Wolfgang Berger
Journal:  Hum Genet       Date:  2007-05-10       Impact factor: 4.132

4.  Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

Authors:  Seema R Lalani; Trilochan Sahoo; Merideth E Sanders; Sarika U Peters; Bassem A Bejjani
Journal:  BMC Med Genet       Date:  2006-02-10       Impact factor: 2.103

5.  De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case.

Authors:  Ha-Su Kim; Jin-Yeong Han; Myo-Jing Kim
Journal:  Korean J Pediatr       Date:  2015-08-21
  5 in total

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