RT Journal Article
SR Electronic
T1 A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 283
OP 287
DO 10.1136/jmg.22.4.283
VO 22
IS 4
A1 Watt, J L
A1 Olson, I A
A1 Johnston, A W
A1 Ross, H S
A1 Couzin, D A
A1 Stephen, G S
YR 1985
UL http://jmg.bmj.com/content/22/4/283.abstract
AB A family in which a pericentric inversion of chromosome 22, inv(22)(p11q12), is segregating is described. Special reference is made to a unique recombinant subject with a 'pure' partial monosomy 22 syndrome of maternal origin. An attempt has been made to correlate the phenotypic abnormalities with monosomy for the segment 22q12----qter.