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Prenatal Diagnosis of Monosomy 17p (17p 13.3 → pter) Associated With Polyhydramnios, Intrauterine Growth Restriction, Ventriculomegaly, and Miller-Dieker Lissencephaly Syndrome in a Fetus

✍ Scribed by Chin-Yi Lin; Chih-Ping Chen; Chiung-Ling Liau; Pen-Hua Su; Teng-Fu Tsao; Tung-Yao Chang; Wayseen Wang

Book ID: 117697400
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 281 KB
Volume: 48
Category: Article
ISSN: 1028-4559
DOI: 10.1016/s1028-4559(09)60332-6

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We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in