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确定特发性智力障碍儿童亚端粒异常的发生率。

To determine the frequency of subtelomeric abnormalities in children with idiopathic mental retardation.

作者信息

Rana K S, Holla R G

机构信息

Consultant (Paediatrics and Paediatric Neurology), Command Hospital (SC), Pune - 40.

Consultant (Neonatology), Fortis Hospital, Shalimar Bagh, New Delhi.

出版信息

Med J Armed Forces India. 2011 Oct;67(4):326-8. doi: 10.1016/S0377-1237(11)60077-4. Epub 2011 Oct 22.

DOI:10.1016/S0377-1237(11)60077-4
PMID:27365840
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4920630/
Abstract

BACKGROUND

Cross-sectional study was carried out to determine the frequency of subtelomeric abnormalities in children with idiopathic mental retardation (MR).

METHOD

Multiplex ligation-dependant probe amplification technique was used to detect subtelomeric abnormalities.

RESULTS

Out of 35 children, 21 (60%) were males. Family history of MR was present in 23%. Main clinical features included speech delay in all motor delay cases (83%) and non-specific dysmorphic features (77%).

CONCLUSION

Associated clinical features were more in children with intelligence quotient (IQ) < 50 (P < 0.05). Subtelomeric deletion (4q35) was observed in one child.

摘要

背景

开展横断面研究以确定特发性智力障碍（MR）儿童亚端粒异常的发生率。

方法

采用多重连接依赖探针扩增技术检测亚端粒异常。

结果

35名儿童中，21名（60%）为男性。23%有MR家族史。主要临床特征包括所有运动发育迟缓病例中的语言发育迟缓（83%）和非特异性畸形特征（77%）。

结论

智商（IQ）<50的儿童相关临床特征更多（P<0.05）。在一名儿童中观察到亚端粒缺失（4q35）。

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本文引用的文献

1
Children with 4q-syndrome: the parents' perspective.
Genet Couns. 2007;18(2):189-99.
2
Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.对4号染色体短臂末端缺失进行进一步的表型描述，重点关注颅内和生殖解剖结构。
Orphanet J Rare Dis. 2007 Feb 12;2:9. doi: 10.1186/1750-1172-2-9.
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Clinical genetic evaluation of the child with mental retardation or developmental delays.对智力迟钝或发育迟缓儿童的临床基因评估。
Pediatrics. 2006 Jun;117(6):2304-16. doi: 10.1542/peds.2006-1006.
4
Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.通过甲基化特异性熔解分析和甲基化特异性多重连接依赖探针扩增对普拉德-威利综合征和安吉尔曼综合征进行分子诊断。
Clin Chem. 2006 Jul;52(7):1276-83. doi: 10.1373/clinchem.2006.067603. Epub 2006 May 11.
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The new cytogenetics: blurring the boundaries with molecular biology.新细胞遗传学：模糊与分子生物学的界限
Nat Rev Genet. 2005 Oct;6(10):782-92. doi: 10.1038/nrg1692.
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Subtelomeric rearrangements in idiopathic mental retardation.特发性智力障碍中的亚端粒重排
Indian J Pediatr. 2005 Aug;72(8):679-85. doi: 10.1007/BF02724077.
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Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.对病因不明的智力发育迟缓儿童进行亚端粒重排的前瞻性筛查：阿姆斯特丹的经验。
J Med Genet. 2002 Aug;39(8):546-53. doi: 10.1136/jmg.39.8.546.
8
Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.亚端粒重排：一项通过高分辨率G显带和荧光原位杂交技术对特发性智力障碍的选定和未选定先证者及对照个体进行研究的结果。
Hum Genet. 2001 Oct;109(4):440-51. doi: 10.1007/s004390100588.
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Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.亚微观亚端粒重排的临床研究：一份清单。
J Med Genet. 2001 Mar;38(3):145-50. doi: 10.1136/jmg.38.3.145.
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