title: Unusual variant of holoprosencephaly in monosomy 13q.
abstract: The clinical phenotype related to the terminal deletion of the long arm of the chromosome 13 (the so-called 13q- syndrome) includes a considerable number of malformations, especially of the brain. This report describes five cases of a cerebral midline anomaly that leads to a particular clover-shaped type of holoprosencephaly in 13q- fetuses at different stages of the second and third trimesters of gestation. Our cases are compared to those in literature reviews. This malformation has only been described by computer tomography and magnetic resonance imaging in eight children of various ages and has been called "middle interhemispheric fusion" or syntelencephaly. Recently, the human gene ZIC2, the mutation of which leads to holoprosencephaly, has been mapped to the long arm of chromosome 13. on band q32. These findings suggest that this particular type of holoprosencephaly may be related to ZIC2 gene loss of function.
authors.affiliation: Service d'Anatomie Pathologique, CHU, Hôpital Morvan, 29609 Brest Cedex, France.
authors.forename: Pascale
authors.initials: P
authors.lastname: Marcorelles
authors.forename: Philippe
authors.initials: P
authors.lastname: Loget
authors.forename: Catherine
authors.initials: C
authors.lastname: Fallet-Bianco
authors.forename: Joëlle
authors.initials: J
authors.lastname: Roume
authors.forename: Ferechte
authors.initials: F
authors.lastname: Encha-Razavi
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Delezoide
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities*; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009687:Nuclear Proteins; D011247:Pregnancy; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D014157:Transcription Factors; C491812:ZIC2 protein, human