Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36.
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.
Hatziioannou
A G
AG
Department of Pediatric Dentistry, Tufts University School of Dental Medicine, Boston, Massachusetts.
Krauss
C M
CM
Lewis
M B
MB
Halazonetis
T D
TD
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*