RT Journal Article
SR Electronic
T1 Trisomy 1q24----1q41 in two sibs with an insertion in an inverted chromosome 4.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 133
OP 135
DO 10.1136/jmg.21.2.133
VO 21
IS 2
A1 Stoll, C
A1 Roth, M P
A1 Dott, B
YR 1984
UL http://jmg.bmj.com/content/21/2/133.abstract
AB We report two patients whose karyotype revealed an additional segment 1q inserted into an inverted chromosome 4. The patients were partially trisomic for the region 1q24----1q41, karyotype 46,XY or XX, inv ins(4;1)inv(4)(q28;q24q41)(p15 . 3q28), while in the mother the chromosomal aberration was balanced. The inserted segment was inverted. In six patients from three other families with insertions, the segment 1q25----1q32 was inserted into the short arm of chromosome 1. In another patient, the segment 1q25----1q42 of the mother was inverted and inserted into the long arm of chromosome 6. These findings suggest an increased susceptibility for a segment of the long arm of chromosome 1 to be inserted and inverted in rearrangements.