Analisis Studi Kasus Mengenai Usia Ibu dan Gambaran Fisik Penderita Sindrom Down

Diela Gista Arvanda, Annisa Nurul Izzah
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Abstract

Down syndrome or trisomy 21 is the most common genetic disorder among other genetic disorders. The definition of Down syndrome is a chromosomal abnormality in which there is an extra copy of chromosome 21 due to non-disjunction, mosaicism or the rarest occurrence is translocation. The age of the mother when pregnant is one of the factors causing Down syndrome, the older the mother's age, the greater the chance of Down syndrome. The development of Down syndrome children is different from other normal children, so special care and parenting are needed. The purpose of this research is to analyze through case studies of Down syndrome patients aspects of birth occurrence, aspects of child growth and development, and aspects of the physical description of Down syndrome patients. The results of this study indicate that many factors can influence the occurrence of Down syndrome, namely genetic factors, radiation factors, and the age of the mother. If Down syndrome children receive a form of therapy, health care, and supportive parenting and environment. Then Down syndrome children can adapt well such as how to communicate and interact.
唐氏综合症患者母亲年龄和身体特征的病例研究分析
唐氏综合征或 21 三体综合征是其他遗传疾病中最常见的遗传疾病。唐氏综合征的定义是一种染色体异常,即由于非分离、嵌合或最罕见的易位而导致 21 号染色体多出一个拷贝。母亲怀孕时的年龄是导致唐氏综合症的因素之一,母亲的年龄越大,患唐氏综合症的几率就越大。唐氏综合症儿童的发育与其他正常儿童不同,因此需要特殊照顾和养育。本研究的目的是通过对唐氏综合征患者的个案研究,分析唐氏综合征患者的出生发生、儿童生长发育和体貌特征等方面。研究结果表明,影响唐氏综合征发生的因素有很多,即遗传因素、辐射因素和母亲的年龄。如果唐氏综合征患儿接受了某种形式的治疗、保健以及支持性的养育和环境。那么唐氏综合症儿童就能很好地适应,如如何沟通和交流。
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