Literature DB >> 12684692

Evidence for a new microdeletion syndrome in 15q21.

T Liehr1, H Starke, A Heller, A Weise, V Beensen, G Senger, G Kittner, M Prechtel, U Claussen, J Seidel.   

Abstract

We report on the fourth known case with an interstitial deletion in 15q21. In the present case the breakpoints have been determined by GTG-banding, microdissection and the recently developed multicolor banding (MCB) technique as 15q21.1-q21.3. Common features in all four cases are mental retardation, growth retardation, a beak-like nose with hypoplastic alae nasi and a thin upper lip. Additional frequent features are small hands and feet, hypotonia, low hair implantation, low set ears, clinodactyly and obesity. The possibility that a critical region for a new microdeletion-syndrome is situated in 15q21 is discussed.

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Year:  2003        PMID: 12684692     DOI: 10.3892/ijmm.11.5.575

Source DB:  PubMed          Journal:  Int J Mol Med        ISSN: 1107-3756            Impact factor:   4.101


  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.  Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome.

Authors:  Curtis K Deutsch; Tania Hreczko; Lewis B Holmes
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2013-03-06

4.  Molecular cytogenetics and cytogenomics of brain diseases.

Authors:  I Y Iourov; S G Vorsanova; Y B Yurov
Journal:  Curr Genomics       Date:  2008-11       Impact factor: 2.236

5.  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 in total

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