Prenatal diagnosis of partial trisomy 3p (3p21 → pter) and partial monosomy 11q (11q23 → qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system

Chih Ping Chen*, Tzu Hao Wang, Chyi Chyang Lin, Fuu Jen Tsai, Lie Jiau Hsieh, Wayseen Wang

*此作品的通信作者

研究成果: 期刊稿件文章同行評審

6 引文 斯高帕斯(Scopus)

摘要

Patients with partial trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with partial trisomy 3p. It has been suggested that multiple genetic hits or environmental exposures are required for the clinical expression of holoprosencephaly. At 16 weeks of gestation, prenatal sonography identified a fetus with holoprosencephaly, orofacial defts, pyelectasis, and a unilateral duplex renal system. Amniocentesis revealed the karyotype of 46,XX,der(11)t(3;11)(p21;q23)pat with partial trisomy 3p (3p21→pter) and partial monosomy 11q (11q23→qter). The pregnancy was subsequently terminated. Postnatally, the proband showed hypotelorism, a depressed nasal bridge, orofacial clefts and holoprosencephaly-premaxillary agenesis. The present case provides evidence that partial trisomy 3p/monosomy 11q can be a genetic cause of holoprosencephaly and del(11)(q23→qter) is associated with a duplex renal system.

原文英語
頁(從 - 到)822-826
頁數5
期刊Journal of the Formosan Medical Association
107
發行號10
DOIs
出版狀態已出版 - 10 2008
對外發佈

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