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TRIPLOIDY AND FETAL HOLOPROSENCEPHALY
- Article from:
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Genetic Counseling
- Article date:
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January 1, 2008
- Author:
- Chen, C-P; Shieh, E; Chern, S-R; Wang, W
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Copyright informationCopyright Ãditions Médecine et Hygiène 2008. Provided by ProQuest LLC. (Hide copyright information)
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Holoprosencephaly (HPE) is a developmental abnormality characterized by congenital malformations of the forebrain and mid-face. There are variable types of HPE, ranging from severe alobar HPE with cyclopia, ethmocephaly, cebocephaly, or HPE-PMA, to microforms with microcephaly, corpus callosum agenesis/dysgenesis, mental retardation, ocular hypotelorism, or a single maxillary central incisor. Chromosomal aberrations, Mendelian mutations, and teratogens are known causes of HPE. HPE is associated with chromosomal abnormalities such as trisomy 13, trisomy 18, triploidy, del(2p), dup(3p), del(7q), del(13q), del(18p), and del(21q). Prenatal diagnosis of HPE may be associated with triploidy. ...
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CONCOMITANT OCCURRENCE OF HOLOPROSENCEPHALY AND OMPHALOCELE
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787 words
......with trisomy 13, four cases with trisomy 18, five cases with triploidy, and 10 cases with structural chromosomal abnormalities such as...deletion and interstitial deletion of 14q, and 33 cases (42.9%) had normal karyotypes. Among the 77 cases with HPE, four cases (5.2%) had ...
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OCCIPITAL ENCEPHALOCELE ASSOCIATED WITH INIENCEPHALY MIMICKING AN...
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January 1, 2008 ;
Chen, C-P; Hwu, Y-M; Tsai, F-J; Wang, W;
747 words
......woman was referred for genetic counseling at 20 gestational weeks because of a fetal cystic nuchal mass. Prenatal ultrasound at 20 gestational weeks revealed a singleton fetus with a 3 ? 4 cm cystic...1). The fetal biometry was consistent with 20 gestational weeks, and the amniotic ...
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