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  • Title: Fetal holoprosencephaly: associated malformations and chromosomal defects.
    Author: Berry SM, Gosden C, Snijders RJ, Nicolaides KH.
    Journal: Fetal Diagn Ther; 1990; 5(2):92-9. PubMed ID: 2130835.
    Abstract:
    In 38 fetuses with holoprosencephaly, cordocentesis and blood karyotyping was performed. The karyotype was normal in all 12 cases with isolated holoprosencephaly, and in all 5 with holoprosencephaly and facial defects only. In contrast, 11 of the 21 (52%) fetuses with extrafacial malformations were chromosomally abnormal [47xx+13, n = 6; 47xy+13, n = 2; 47xx+18, n = 1; 46xx-18+i(18q), n = 1; 46xy 21q-, n = 1]. In the chromosomally normal group, there was parental consanguinity in 2 cases and recurrence of holoprosencephaly in 3.
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