16p11.2 microdeletion syndrome: a case report.
16p11.2 microdeletion syndrome: a case report.
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DOI：
10.1186/s13256-018-1587-1
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发表时间：
2018-04-03
影响因子：
1
通讯作者：
Davanzo R
中科院分区：
文献类型：
--
作者：
Dell'Edera D;Dilucca C;Allegretti A;Simone F;Lupo MG;Liccese C;Davanzo R
复发性16p11.2微缺失是自闭症谱系障碍、超重和相关神经发育障碍的最常见遗传病因之一。我们的患者是一名2岁的白色女孩，她是一对非血缘关系的健康年轻白色夫妇（父亲33岁，母亲29岁）的第一次怀孕。我们的病人和她的父母的DNA进行了分析比较基因组杂交芯片平台。比较基因组杂交-阵列分析突出了16p11.2区域的约600 kb的缺失。它具有种族隔离的性质，因为它是在母亲和她2岁的女儿身上发现的。荧光原位杂交分析证实了微缺失。本临床病例值得注意，因为观察到的微缺失通常与倾向于超重的临床表型相关，但先证者（女性）因身高和体重发育不良以及厌食而住院。此外，必须注意到所观察到的基因组异常的分离性质，以及母亲和女儿之间的表型变异性。这里描述的情况下，丰富了与16p11.2微缺失的表型谱。由于这些原因，在存在疑似遗传病理的情况下，从临床角度研究先证者，将临床观察扩展到父母，并提供良好的家族病史是至关重要的。通过这种方式，有可能揭示家族遗传病理的存在，其表型结果在家族成员中可能高度可变。
The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Our patient is a 2-year-old white girl from the first pregnancy of a non-consanguineous healthy young white couple (father 33-years old and mother 29-years old). Our patient and her parents’ DNA were analyzed by comparative genomic hybridization-array platform. Comparative genomic hybridization-array analysis highlighted a ∼ 600 kb deletion in 16p11.2 region. It has a segregant nature, since it was found in the mother and in her 2-year-old daughter. The microdeletion was confirmed by fluorescence in situ hybridization analysis. The presented clinical case is worthy of note since the observed microdeletion is often associated with a clinical phenotype tending to overweightness, but the proband (female) was hospitalized due to poor height and weight development, and anorexia. Moreover, the segregant nature of the observed genomic abnormality has to be noted, as well as the phenotypic variability between the mother and daughter. The case described here enriches the phenotypical spectrum linked to the 16p11.2 microdeletion. For these reasons, in the presence of a suspected genetic pathology it is fundamental to study the proband from the clinical point of view, to extend the clinical observation to the parents, and to provide a good family anamnesis. In this way, it is possible to reveal the presence of a familial genetic pathology whose phenotypical outcomes can be highly variable among the members of a family.