Trisomy 13: prevalence and clinicopathologic correlates of another potentially lenalidomide-sensitive cytogenetic abnormality Therapy with lenalidomide has led to remissions in patients with myelodysplastic syndrome (MDS), 1 myelofibrosis, 2 and acute myeloid leukemia (AML) 3 with a del(5q) karyotypic abnormality. Fehniger et al reported in Blood 4 complete remissions with lenalidomide in AML w...

Report of a new case and clinical delineation of mosaic trisomy 9 syndrome SUMMARY A newborn girl with trisomy 9 mosaicism is reported. Clinical findings included major malformations: bilateral hip dislocation, dislocation of the left knee, extreme micro-gnathia, and microsomy. Up to date, 11 live-born infants with trisomy 9 have been reported, which allows us to make a karyotype/phenotype corr...

Six cases of translocation trisomy for the distal half of the short arm of a number 9 chromosome and four asymptomatic balanced translocation carriers are presented in a three-generation pedigree. The clinical features are remarkably similar to those recently recognized and increasingly reported in full short arm (9p) trisomy and should be considered a modification of the same syndrome. In addi...

BACKGROUND Maternal serum triple marker screening (alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol) can detect 60-70% of Down syndrome and 60% of Edwards syndrome. Previous studies have reported that positive serum screening is related to other fetal chromosomal abnormalities, pregnancy complications, and adverse outcomes. We determined the incidence and karyotype of c...

We performed cytogenetic analyses by Q- and G-banding techniques of unstimulated or B-mitogen-stimulated spleen, bone marrow, and peripheral blood cells from six patients with malignant macroglobulinemia [two with Waldenström's macroglobulinemia (WM) and four with chronic lymphocytic leukemia associated macroglobulinemia (CLL-M)]. Normal karyotypes were obtained in two of the treated patients (...

Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is un...

CONTEXT Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival. CASE REPORTS The first patient was a boy aged six years and five months presenting weight of 14.5 kg (< P3), height of 112 cm (P10), head circumference of 49 cm (P2), prominent f...

We describe a patient with double trisomy 9q34.1-->qter and 21pter-->q22.1 resulting from 3:1 segregation of a maternal balanced translocation. The patient shows a clinical syndrome similar to that observed in patients with duplication of the chromosome 9q distal region, while no signs of trisomy 21 were observed. The use of high resolution banding and FISH were of fundamental importance for th...