Complex chromosomal rearrangement leading to partial trisomy 22.

Familial complex chromosome rearrangement ascertained by in situ hybridisation.

A complex familial chromosome translocation has been ascertained by combining classical cytogenetics and CISS (chromosomal in situ suppression). Cytogenetic analysis of a chorionic villus sample with G banding showed a 47,XX,-2, +der(2)t(2;22),+der(22)t(2;22) karyotype. Analysis of peripheral blood lymphocytes from the parents by G banding and CISS showed a more complex translocation in the fat...

Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9 p 22 - > pter and trisomy lOp I 1 . 2 - pter and 1 1 q 21 analysed by dual and triple colour FISH

A familial four breakpoint complex chromosomal rearrangement involving chromosomes 9, 10, and 11 was ascertained through a child with dysmorphic features, hypertrophic cardiomyopathy, and hypotonia. A cryptic insertion, invisible in G banded chromosomes was identified by fluorescence in situ hybridisation (FISH) using chromosome specific libraries. Possible mechanisms of its formation as weli a...

Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22.

RECONSIDERATION OF THE CAT EYE SYNDROME: RECIPROCAL TRANSLOCATION T(1l,22) LEADING TO PARTIAL TRISOMY OF llq AND 22.

We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. We emphasize the importance of family study in such cases.

Case Report AML-M2 with der(18)t(1;18)(q2?;p11.3) in addition to t(8;21) and del(9q)

Total or partial duplication of chromosome 1q and whole arm translocation can result from unbalanced translocation of chromosomes, isochromosomes or jumping translocations. These structural rearrangements are reported as secondary aberrations associated with tumor progression, and advanced disease. Partial duplication of 1q resulting from der(18)t(1;18)(q12;p11) has been reported in Fanconi ane...