RT Journal Article
SR Electronic
T1 Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 857
OP 861
DO 10.1136/jmg.35.10.857
VO 35
IS 10
A1 Davies, A F
A1 Imaizumi, K
A1 Mirza, G
A1 Stephens, R S
A1 Kuroki, Y
A1 Matsuno, M
A1 Ragoussis, J
YR 1998
UL http://jmg.bmj.com/content/35/10/857.abstract
AB Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23). The translocation chromosomes were analysed in detail by FISH and the 6p24 breakpoint was mapped within 50-500 kb of other breakpoints associated with orofacial clefting, in agreement with the assignment of such a locus in 6p24. The chromosome 9 translocation breakpoint was identified to be between D9S156 and D9S157 in 9p23-p22, a region implicated in the 9p deletion syndrome.