title: Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36.
abstract: A familial balanced t(7;9) (q36;q34) was reported recently. Analysis of the craniofacial features of 3 of the sibs showed signs of holoprosencephaly. Two of the sibs have an unbalanced derivative chromosome leading to del(7) (q36) and dup(9) (q34), while the other has a cytogenetically balanced translocation. These findings, together with several reports associating holoprosencephaly with terminal 7q deletions, indicate that a putative locus for holoprosencephaly resides at or near 7q36. It should now be feasible to clone this locus.
authors.affiliation: Department of Pediatric Dentistry, Tufts University School of Dental Medicine, Boston, Massachusetts.
authors.forename: A G
authors.initials: AG
authors.lastname: Hatziioannou
authors.forename: C M
authors.initials: CM
authors.lastname: Krauss
authors.forename: M B
authors.initials: MB
authors.lastname: Lewis
authors.forename: T D
authors.initials: TD
authors.lastname: Halazonetis
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D002899:Chromosomes, Human, Pair 9; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008445:Maxillofacial Development / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics*