title: Holoprosencephaly and chromosomal anomalies.
abstract: Holoprosencephaly is a rare cerebral malformation resulting from failure or incomplete cleavage of the forebrain. The sonographic diagnosis consists of monoventricle, fused thalami and absent cavum septum pellucidi. Chromosomal anomalies, diabetes mellitus, alcohol, autosomal recessive inheritance and toxins have been implicated. We describe seven cases of holoprosencephaly diagnosed in the antenatal and postnatal periods. The chromosomal anomalies included trisomy 13, triploidy, trisomy 13 with an unbalanced 13; 14 translocation and isochromosome of the long arm of 18. The clinicopathological findings and chromosomal anomalies are correlated.
authors.affiliation: Department of Maternal Fetal Medicine, Kandang Kerbau Hospital, Singapore.
authors.forename: B H
authors.initials: BH
authors.lastname: Chow
authors.forename: S F
authors.initials: SF
authors.lastname: Loh
authors.forename: Y L
authors.initials: YL
authors.lastname: Yan
authors.forename: H K
authors.initials: HK
authors.lastname: Ang
authors.forename: G S
authors.initials: GS
authors.lastname: Yeo
mesh_terms: D000032:Abortion, Therapeutic; D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000000981:diagnostic imaging; D025063:Chromosome Disorders; D005260:Female; D005313:Fetal Death; D005865:Gestational Age; D016142:Holoprosencephaly / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000628:therapy; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D016216:Ultrasonography, Prenatal