A de novo reciprocal t(2;18) translocation with regular trisomy 21.

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

Prenatal Diagnosis of De Novo Reciprocal Translocation t(1;12)(q21.3;p11.2) with Trisomy 21 and Sperm FISH Analysis for Increased Aneuploidy Risk

Complex rearrangements such as de novo translocations together with aneuploidy are unusual situations in prenatal diagnosis. We report a case with de novo translocation t(1;12)(q21.3;p11.2) and trisomy 21. Father’s sperm was analyzed for potential of increased risk of aneuploidy. Results showed no paternal increased risk for chromosomes 13, 18, 21, X, Y. Based on our results, we suggest that po...

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.

A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.

Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked psychomotor delay, dysmorphic face, and congenital heart disease. The phenotype of trisomy 18p is variable, from normal appearance to moderate mental retardation. Most cases of trisomy 2p and trisomy 18p result from the inheritance of an unbalanced segregant from a balanced par...

Cytogenetic Evaluation of Down Syndrome: A Review of 1020 Referral Cases

A retrospective analysis was performed on 1102 cases with a provisional diagnosis of Down syndrome referred to the Department of Genetics, Dr.ALMPGIBMS, University of Madras during the period from 1979 to 2006. Cytogenetic analyses confirmed the diagnosis in 1020 cases (92.6%). Among them, regular (free) trisomy 21 constituted 83.82 percent. Mosaicism was recorded in 10.78% and Robertsonian tra...