Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith–Magenis syndrome and external genital defects

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dc.contributor.authorPingping Zhangen_US
dc.contributor.authorYanmei Sunen_US
dc.contributor.authorTian, Haishenen_US
dc.contributor.authorRong, Liminen_US
dc.contributor.authorWang, Fangnaen_US
dc.contributor.authorYu, Xiaopingen_US
dc.contributor.authorLi, Yalien_US
dc.contributor.authorGao, Jianen_US
dc.date.accessioned2020-11-18T10:21:07Z
dc.date.available2020-11-18T10:21:07Z
dc.date.issued2020-06
dc.description.abstractSmith–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 present polyhydramnios 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.en_US
dc.identifier.affiliationsDepartment of reproductive and genetics, Hebei General Hospital, No.348 West Heping Road, Shijiazhuang, Hebei Province 050051, People’s Republic of Chinaen_US
dc.identifier.citationPingping Zhang, Yanmei Sun, Tian Haishen, Rong Limin, Wang Fangna, Yu Xiaoping, Li Yali, Gao Jian. Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith–Magenis syndrome and external genital defects. Journal of Genetics. 2020 Jun; 99: 1-6en_US
dc.identifier.issn0022-1333
dc.identifier.issn0973-7731
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215511
dc.languageenen_US
dc.publisherIndian Academy of Sciencesen_US
dc.relation.volume99en_US
dc.source.urihttps://doi.org/10.1007/s12041-020-01213-xen_US
dc.subjectchr17p11.2p12 deletionen_US
dc.subjectprenatal diagnosisen_US
dc.subjectneonatal phenotypeen_US
dc.subjectSmith–Magenis syndromeen_US
dc.subjectSNP arrayen_US
dc.titlePrenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith–Magenis syndrome and external genital defectsen_US
dc.typeJournal Articleen_US
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