Abstract:
BACKGROUND:Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients. METHODS:Clinical data were collected from 14 novel patients that had been investigated by high resolution microarray techniques. Molecular investigation and updated clinical information of one cytogenetically previously reported patient were also included. RESULTS:The molecular investigation identified deletions in the region 3q12.3q21.3 with different boundaries and variable sizes. The smallest studied deletion was 580 kb, located in 3q13.31. Genotype-phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features including a short philtrum and protruding lips. Abnormal genitalia were found in the majority of males, several having micropenis. Finally, a postnatal growth pattern above the mean was apparent. The 580 kb deleted region includes five RefSeq genes and two of them are strong candidate genes for the developmental delay: DRD3 and ZBTB20. CONCLUSION:A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Molin AM,Andrieux J,Koolen DA,Malan V,Carella M,Colleaux L,Cormier-Daire V,David A,de Leeuw N,Delobel B,Duban-Bedu B,Fischetto R,Flinter F,Kjaergaard S,Kok F,Krepischi AC,Le Caignec C,Ogilvie CM,Maia S,Mathieu-Dramadoi
10.1136/jmedgenet-2011-100534subject
Has Abstractpub_date
2012-02-01 00:00:00pages
104-9issue
2eissn
0022-2593issn
1468-6244pii
jmedgenet-2011-100534journal_volume
49pub_type
杂志文章abstract:BACKGROUND:Non-syndromic isolated cleft lip with or without cleft palate (NCL/P) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. It has been reported that maternal nutritional factors are likely to play a major role in development o...
journal_title:Journal of medical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1136/jmg.33.11.965
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
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journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2006.043539
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
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更新日期:2007-04-01 00:00:00
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journal_title:Journal of medical genetics
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doi:
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2010.081455
更新日期:2011-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.057570
更新日期:2008-08-01 00:00:00
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pub_type: 杂志文章
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journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2015-103132
更新日期:2016-01-01 00:00:00
abstract::Chromosome analysis of an infant with characteristic features of trisomy 18 is presented. The chromosome complement contained a modal count of 47 but there was only one No. 18. In addition, there were two metacentric chromosomes of different sizes. The two metacentric chromosomes were identified by G- and C-banding to...
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pub_type: 杂志文章
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更新日期:1978-02-01 00:00:00