During the period January 1987-May 2007, 77 consecutive cases of fetal holoprosencephaly (HPE) were cytogenetically analyzed at the Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. Of the 77 cases with karyotyping, 44 cases (57.1%) had chromosomal abnormalities including 25 cases with trisomy 13, four cases with trisomy 18, five cases with triploidy, and 10 cases with structural chromosomal abnormalities such as distal 7q deletion, distal 3p duplication, distal 18p 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 concomitant HPE and omphalocele. None of the four cases ...

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