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15分钟会诊：对一名21三体综合征（唐氏综合征）患儿的检查

Fifteen-minute consultation: The review of a child with trisomy 21 (Down's syndrome).

作者信息

Dalrymple Rebecca Amy, Somerville Laura Helen, Hamza Sherin, Matta Nashwa

机构信息

Community Child Health, Specialist Children's Services, The West Centre, Glasgow, UK

Community Child Health, Specialist Children's Services, The West Centre, Glasgow, UK.

出版信息

Arch Dis Child Educ Pract Ed. 2022 Apr;107(2):88-94. doi: 10.1136/archdischild-2020-319814. Epub 2021 Jan 15.

DOI:10.1136/archdischild-2020-319814
PMID:33452013
Abstract

Down's syndrome (DS) is the most common chromosomal abnormality seen in live born children and it is the most common genetic cause of intellectual disability. It is associated with abnormalities in many body systems, some of which can cause life threatening complications. This article aims to cover the important aspects to cover when seeing children with DS for their routine follow-up in the neurodevelopmental or general paediatric clinic.

摘要

唐氏综合征（DS）是活产儿中最常见的染色体异常疾病，也是智力残疾最常见的遗传病因。它与许多身体系统的异常有关，其中一些异常可导致危及生命的并发症。本文旨在涵盖在神经发育或普通儿科诊所对唐氏综合征患儿进行常规随访时需要关注的重要方面。

相似文献

1
Fifteen-minute consultation: The review of a child with trisomy 21 (Down's syndrome).15分钟会诊：对一名21三体综合征（唐氏综合征）患儿的检查
Arch Dis Child Educ Pract Ed. 2022 Apr;107(2):88-94. doi: 10.1136/archdischild-2020-319814. Epub 2021 Jan 15.
2
Atypicality or specific screen: which is better at detecting non-Down's chromosomal anomalies?非典型性筛查还是特异性筛查：哪种在检测非唐氏染色体异常方面更具优势？
Ann Clin Biochem. 1997 Nov;34 ( Pt 6):675-80. doi: 10.1177/000456329703400613.
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Autism in Down's syndrome: presentation and diagnosis.唐氏综合征中的自闭症：表现与诊断
J Intellect Disabil Res. 1992 Oct;36 ( Pt 5):449-56. doi: 10.1111/j.1365-2788.1992.tb00563.x.
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Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis.唐氏综合征与白血病：流行病学、遗传学、细胞遗传学及白血病发生机制
Cancer Genet Cytogenet. 1987 Sep;28(1):55-76. doi: 10.1016/0165-4608(87)90354-2.
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Chromosomal mosaicism in Down's syndrome: a diagnostic challenge.唐氏综合征中的染色体嵌合现象：一项诊断挑战。
Dev Med Child Neurol. 1977 Oct;19(5):668-72. doi: 10.1111/j.1469-8749.1977.tb08001.x.
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Pericentrin expression in Down's syndrome.着丝粒蛋白在唐氏综合征中的表达。
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Behaviour problems in retarded children with special reference to Down's syndrome.智力迟钝儿童的行为问题，特别提及唐氏综合征
Br J Psychiatry. 1986 Aug;149:156-61. doi: 10.1192/bjp.149.2.156.
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Down's syndrome and leukemia: mechanism of additional chromosomal abnormalities.唐氏综合征与白血病：额外染色体异常的机制
Am J Ment Defic. 1978 May;82(6):542-8.
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The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing.产前诊断的未来：快速检测还是全核型分析？对因唐氏综合征检测而转诊的女性的染色体异常和妊娠结局的审核。
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Acta Cardiol. 2008 Oct;63(5):585-9. doi: 10.2143/AC.63.5.2033225.

引用本文的文献

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Kidney and urogenital abnormalities in Down syndrome: a meta-analysis.唐氏综合征的肾脏和泌尿生殖系统异常：一项荟萃分析。
Ital J Pediatr. 2024 Apr 20;50(1):79. doi: 10.1186/s13052-024-01636-7.
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Cleft Palate in a Newborn With Trisomy 21: A Case Report.一名患有21三体综合征的新生儿腭裂：病例报告
Cureus. 2023 May 16;15(5):e39107. doi: 10.7759/cureus.39107. eCollection 2023 May.