No abstract

No abstract

We report three patients with del(17)(pl 1*2pl 1.2) who were identified at our centre over a six month period and review the other published reports of this chromosome deletion. We comment upon the phenotypic findings and emphasise characteristic features.

SUMMARY We report a female with a deletion of 9p and concomitant duplication of 16q [46,XX,+der(9)

The constitutional translocation between chromosomes 11 and 22 [t(11;22)(q23.3;q11.2)] is one of the best known rearrangements in the human genome. Hitherto only one type of unbalanced karyotype, namely 47,XX or XY, +der(22) t(11;22)(q23.3;q11.2) was found among offspring of the translocation carriers. This result is the product of a 3:1 segregation at meiosis. We report an alternative unbalanced karyotype. The proband's karyotype is 47,XY,t(11;22)(q23.3;q11.2), +der(22)t(11;22)(q23.3;q11.2)pat. This finding cannot be due to nondisjunction in first meiosis of the translocation carrier.