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首页> 外文期刊>Journal of genetics >Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smitha??Magenis syndrome and external genital defects
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Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smitha??Magenis syndrome and external genital defects

机译：17p11.2p12的德诺诊断和新生儿表型与史密萨综合征和外生生殖器缺陷相关的17p11.2p12

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Smitha??Magenis syndrome (SMS, OMIM: 182290) is a multiple congenital anomalies and intellectual disability syndrome due to a 3.45 Mb microdeletion involving 17p11.2 and is estimated to occur about one in 25,000 births. Up to now, the ultrasound findings of the foetus with SMS and their external genital defects in patients are rarely reported. This case indicates that foetus with SMS may presentpolyhydramnios and ventriculomegaly in the second trimester. The newborn male patient had an abnormal phenotype in which he has micropenis and his anus is close to the perineal body. The identification of this case may further expand the phenotypic spectrum of this genetic disorder.
机译：Smitha ?? Magenis综合征（SMS，OMIM：182290）是一种多重先天性异常和智障残疾综合征，涉及17p11.2的3.45 MB微缺失，估计发生在25,000名中。到目前为止，很少报道胎儿与SMS及其外部生殖器缺陷的超声检查。这种情况表明，胎儿与SMS可以在第二三个月中呈现出来的羟研锌剂和心室凝血。新生儿男性患者具有异常表型，其中他具有微生物，他的肛门靠近受害者身体。这种情况的鉴定可以进一步扩展该遗传症的表型谱。

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