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Am J Med Genet. 1991 Aug 1;40(2):201-5.

Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36.

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  • 1Department of Pediatric Dentistry, Tufts University School of Dental Medicine, Boston, Massachusetts.


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.

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