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KMID : 0606620070030040254
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Korean Journal of Fetal Medicine
2007 Volume.3 No. 4 p.254 ~ p.259
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Prenatal Diagnosis of Holoprosencephaly with der(7)t(5;7)(p15.3;q32)pat
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Park In-Yang
Kim Myung-Shin
Kim Ja-Young
Kim Seok-Chan
Jung Chan-Kwon
Shin Jong-Chul
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Abstract
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A 25-year-old primigravida woman visited our hospital at 14 weeks gestation. Prenatal ultrasonogram at 14 gestational weeks showed alobar holoprosencephaly with fused thalami, central monoventricle and cleft palate. Miscarriage occurred at 17 weeks of gestation and a female abortus measured 15 cm in length and 73.7 g in weight. The father was a carrier of balanced translocation; 46,XY,t(5;7)(p15.3;q32) and the karyotype of the mother was 46,XX,inv(9)(p11q13). No phenotypic abnormality of parents was depicted. The karyotype of the fetal abortus was confirmed to 46,XX,der(7)t(5;7)(p15.3;q32),inv(9)(p11q13). The clinical phenotype in autopsy showed dysmorphic features of cleft lip and palate, ambiguous external genitalia, and alobar holoprosencephaly with central monoventricle. Haploinsufficiency of the sonic hedgehog gene at 7q36 does account for the occurrence of holoprosencephaly in this fetus with deletion of distal 7q(32→qter).
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KEYWORD
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Holoprosencephaly, Balanced translocation, Hedgehog
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