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Tetrasomy 21pter→q21.2 in a male infant without typical Downs syndrome dysmorphic features but moderate mental retardation

机译：没有典型唐氏综合症畸形特征但中度智力低下的男婴四体21pter→q21.2

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期刊名称 Journal of Medical Genetics
作者
I Rost; H Fiegler; C Fauth; P Carr; T Bettecken; J Kraus; C Meyer; A Enders; A Wirtz; T Meitinger; N Carter; M Speicher;
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作者单位

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年(卷),期 2004(41),3
年度 2004
页码 e26
总页数 6
原文格式 PDF
正文语种
中图分类遗传学;
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1. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. [J] . Kirchhoff M, Bisgaard AM, Bryndorf T, European journal of medical genetics . 2007,第1期

机译：对一组智力低下综合征的MLPA分析显示，有5.8％的智力低下和畸形特征患者（包括Sotos综合征和Williams-Beuren综合征区域的重复患者）失衡。
2. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. [J] . Callier P, Faivre L, Thauvin Robinet C, American journal of medical genetics, Part A . 2008,第16期

机译：Array-CGH在30例患有智力低下，畸形特征和先天性畸形的患者中，检测出特征与Goldenhar综合征重叠的患者间质性1p22.2-p31.1缺失。
3. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features. [J] . Haddad MR, Mignon Ravix C, Cacciagli P European journal of medical genetics . 2009,第4期

机译：具有中度智力障碍和畸形特征的患者的从头平衡易位的特征。
4. Dance Learning for Children with Moderate Mental Retardation at the Pembina State Special Education School of Yogyakarta [C] . Heni Siswantari, Mira Setia Wati International Conference on Innovative Research Across Disciplines . 2020

机译：在彭尼卡塔省普滨特刊学派中为温和精神迟滞的儿童舞蹈学习
5. Increasing expression in an adult male with Down syndrome and moderate mental retardation [D] . Lett, Charlene 2005

机译：唐氏综合症和中度智力低下的成年男性表达增加
6. Familial partial trisomy 8p without dysmorphic features and only mild mental retardation [O] . J J M Engelen, C E M de Die-Smulders, J M J Sijstermans, 1995

机译：家族性部分三体性8p无畸形特征仅轻度智力低下
7. Tetrasomy 21pter→q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation [O] . Rost, I, Fiegler, H, Fauth, C, 2004

机译：没有典型唐氏综合症畸形特征但中度智力低下的男婴四体21pter→q21.2

Tetrasomy 21pter→q21.2 in a male infant without typical Downs syndrome dysmorphic features but moderate mental retardation

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