نتایج جستجو برای: isochromosome 18p
تعداد نتایج: 551 فیلتر نتایج به سال:
Precursor B-cell lymphoblastic leukemia is primarily a disease of children with most cases occurring before the age of six. Approximately 3000 new cases of lymphoblastic leukemia were reported in the United States in 2000. The presence of isochromosomes is a relatively unusual finding. In the few published studies available, isochromosomes occur in between 1-4% of call cases of lymphoblastic le...
Two malignant extragonadal germ cell tumors are reported, histologically classified as immature teratomas, having pseudodiploid karyotypes with complex structural rearrangements but lacking isochromosome 12p or other rearrangements involving 12p. The absence of 12p material in structural rearrangements was confirmed by chromosome painting. In the two tumors the following common chromosomal brea...
Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here a patient with PKS and intrachromosomal triplication of the short arm of chromosome 12. Her karyotype was mos 46,XX,inv trp(12)(p11.2p13)[34]/ 46,XX[16]de novo by conventional cytogenetics and fluorescent in situ hybri...
Peripheral leukocytes from a male patient with chronic myelogenous leukemia in blast crisis were implanted directly into the intraperitoneal cavity of seven newborn hamsters treated with antilymphocyte serum. At sacrifice 17-19 days after implantation, three hamsters were found to have disseminated tumors. The other four hamsters were cannibalized. Chromosome analysis of cells from the enlarged...
The acronym VACTERL describes the non-random co-occurrence of three of the following anomalies: vertebral (V), anal (A), cardiac (C), tracheoesophageal fistula with or without oesophageal atresia (TE), renal (R) and limb defects (L). Here, we report a newborn baby with VACTERL-type anomalies along with a single umbilical artery. The additional interesting findings include development dysplasia ...
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