Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
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- 作者：Martine Isabel Boyle ; Cathrine Jespersgaard ; Lusine Nazaryan ; Kirstine Ravn ; Karen Brø ; ndum-Nielsen ; Anne-Marie Bisgaard ; Zeynep Tü ; mer ; Zeynep.tumer@regionh.dk" class="auth_mail" title="E-mail the corresponding author
- 关键词：ADHD ; attention deficit hyperactivity disorder ; CDCA5 ; cell division cycle-associated protein 5 ; CDG ; congenital disorder of glycosylation ; CdLS ; Cornelia de Lange syndrome ; GERD ; gastroesophageal reflux disease ; HDAC8 ; histone deacetylase 8 ; HRAS ; v-ha-ras harvey rat sarcoma viral oncogene homolog ; HRASLS2 ; HRAS-like tumor suppressor 2 ; HRASLS3 ; HRAS-like tumor suppressor 5 ; HRASLS5 ; HRAS-like tumor suppressor 5 ; LGALS12 ; lectin ; galactoside-binding ; soluble ; 12 ; MEN1 ; multiple endocrine neopla
- 刊名：Gene
- 出版年：2015
- 出版时间：1 November 2015
- 年：2015
- 卷：572
- 期：1
- 页码：130-134
- 全文大小：563 K
文摘
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A 1.6 Mb deletion at 11q12.3–q13.1 in a patient with intellectual disability
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Childhood facial features resembled Cornelia de Lange syndrome.
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Deletions of this region are very rare. Only three patients are reported so far.
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NRXN2, PPP2R5B and CDCA5 (soronin) genes may contribute to the clinical features.