RT Journal Article SR Electronic T1 Segregation of an insertional chromosome rearrangement in 3 generations. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 382 OP 387 DO 10.1136/jmg.15.5.382 VO 15 IS 5 A1 Toomey, K E A1 Mohandas, T A1 Sparkes, R S A1 Kaback, M M A1 Rimoin, D L YR 1978 UL http://jmg.bmj.com/content/15/5/382.abstract AB The interstitial deletion of a segment of chromosome 13, 13q21 leads to 13q22, and its inversion and insertion into the long arm of chromosome 3 at breakpoint q12, was found to segregate in 3 generations of a family. Segregation of this 3 break rearrangement gave rise to individuals monosomic, trisomic, or balanced for the involved segment. Monosomy for 13q21 leads to 13q22 was associated with mental retardation, expressive aphasia, microcephaly, hand abnormalities, and short stature. Partially trisomic individuals had normal mentality, extremely high arched palate, and mild dysmorphic features. There was no evidence for retinoblastoma in the individuals examined. The balanced carriers were normal. Comparison of monosomic individuals with one previous report of a similar deletion reveals marked phenotypic similarities.