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      https://www.ias.ac.in/article/fulltext/jgen/099/0050

    • Keywords

       

      chr17p11.2p12 deletion; prenatal diagnosis; neonatal phenotype; Smith–Magenis syndrome; SNP array.

    • Abstract

       

      Smith–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.

    • Author Affiliations

       

      PINGPING ZHANG1 YANMEI SUN1 HAISHEN TIAN1 LIMIN RONG1 FANGNA WANG1 XIAOPING YU1 YALI LI1 JIAN GAO1

      1. Department of reproductive and genetics, Hebei General Hospital, No.348 West Heping Road, Shijiazhuang, Hebei Province 050051, People’s Republic of China
    • Dates

       
  • Journal of Genetics | News

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