Abstract:
:We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Ruiter M,Koolen DA,Pfundt R,de Leeuw N,Klinkers HM,Sistermans EA,Veltman JA,de Vries BBdoi
10.1097/01.mcd.0000220605.94413.bbsubject
Has Abstractpub_date
2006-07-01 00:00:00pages
133-7issue
3eissn
0962-8827issn
1473-5717pii
00019605-200607000-00002journal_volume
15pub_type
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:2004-01-01 00:00:00
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e328302f0c4
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000220612.63025.4b
更新日期:2006-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199601000-00008
更新日期:1996-01-01 00:00:00
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doi:10.1097/00019605-200009040-00004
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32834116ae
更新日期:2011-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000175604.03221.ad
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32833d015c
更新日期:2011-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32832a9e78
更新日期:2009-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/00019605-200310000-00005
更新日期:2003-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000198925.94082.ea
更新日期:2006-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200009040-00014
更新日期:2000-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200404000-00013
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e328317a716
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3281e668fd
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3282f5280f
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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更新日期:2019-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:
更新日期:1999-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199707000-00013
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journal_title:Clinical dysmorphology
pub_type: 信件,评审
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
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更新日期:2019-10-01 00:00:00