Search results for "Karyotyping"
showing 10 items of 124 documents
Genetics of retinoblastoma: A study
1997
Abstract We have analyzed 43 families with either familial retinoblastoma (RB) (four kindreds), bilateral sporadic RB (10 individuals), or unilateral sporadic RB (29 individuals). Genetic studies focused on karyotype analysis, loss of heterozygosity of intragenic polymorphisms, and search for point mutations. We have been able to identify the genetic defect underlying the disease in eight cases. Deletions have been found in three patients with sporadic RB, two bilateral in one of which karyotyping had previously detected an interstitial deletion of chromosome 13 affecting (q13–q31) and one unilateral. Five different point mutations were responsible for three cases of bilateral sporadic RB, …
Detection of translocations affecting the BCL6 locus in B cell non-Hodgkin's lymphoma by interphase fluorescence in situ hybridization
2001
Structural alterations in 3q27 affecting the BCL6 locus are among the most frequent changes in B-NHL. The aim of the present study was to establish an interphase-FISH assay for the detection of all diverse BCL6 translocations in B-NHL. Two different approaches were tested, one using a PAC-clone spanning the major breakpoint region (MBR) of BCL6 (span-assay), and another using two BAC clones flanking the MBR (flank-assay). Interphase FISH with the span-assay detected the various BCL6 translocations in seven B-NHL cell lines. The dual-color flank-assay was evaluated in two laboratories independently: in normal controls, the cutoff level for false-positive signals was 2.6%, whereas the cutoff …
A singular case of near-haploid stemline karyotype in a renal oncocytoma.
1996
Cytogenetic analysis of a human renal oncocytoma revealed a near-haploid chromosome number of 36 with the loss of chromosomes 1, 2, 3, 6, 8, 9, 15, 17, 21, and 22. Review of the literature disclosed that this cytogenetic configuration is extremely rare in solid human tumors and that no renal oncocytomas with near-haploid stemline karyotype have been described. These results are compared with the other published cases of oncocytoma.
“Masked” Philadelphia chromosome resulting from a t(X;22) in chronic myeloid leukemia
1988
Abstract A rare cytogenetic finding in chronic myeloid leukemia is reported. It consisted in a “masked” Philadelphia chromosome, resulting from an unusual translocation between chromosomes #22 and X. The t(X;22) was present in 100% of direct and cultured bone marrow cell preparations. Chromosome #9 did not seem to be involved in the formation of the Ph marker. Involvement of the X chromosome in karyotypic changes of hematologic diseases, with particular respect to chronic myeloid leukemia, is discussed.
Chromosome 5 abnormalities in acute lymphoblastic leukemia
1991
Abstract We report two cases of acute lymphoblastic leukemia with involvement of chromosome 5. One of them showed a del(5)(q13q33) in a 5-year-old boy who had previously received antineoplastic chemotherapy for an L1-ALL that had been diagnosed nine months before. The other one showed a t(5;7)(q12–13;q36) together with a t(8;14)(q24;q32) and a der(1) in a 66-year-old man with an L3-ALL. Both chromosome 5 aberrations are interpreted as evolutionary events. In the first case, it was secondary to chemotherapy treatment; in the second, an evolutionary chromosome rearrangement, considering the translocation between chromosomes 8 and 14 as the primary cytogenetic event.
CHARACTERIZATION OF A NEW RAT CELL LINE ESTABLISHED FROM 2′AAF-INDUCED COMBINED HEPATOCELLULAR CHOLANGIOCELLULAR CARCINOMA
2001
A rat cell line-nominated CC-62 derived from a combined hepatocellular and cholangiocellular carcinoma obtained by administration of 2-acetylaminofluorene to male Wistar rats, has been established. Using light and electron microscopy it was determined that morphologically the tumor consisted of a mixed population of hepatocytes and cholangiolar neoplastic cells, intermingled with small, undifferentiated oval-like cells. The CC-62 line has been maintained through 90 passages in culture adopting a paving stone arrangement. Doubling time at the 12th passage was 23 h. Immunostaining with a panel of antisera was performed to identify the cytological profiles of the cell line. There was no k-ras …
A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on c…
2005
We report on a pure duplication of the proximal chromosome 2q in a 6.5-year-old boy with V-shaped midline cleft palate and bifid uvula, posteriorly located tongue, and micrognathia (Pierre Robin sequence), celiac disease, failure to thrive, and developmental delay. Cytogenetic and FISH analysis indicated a duplication of chromosome 2q13-q22. In general, pure proximal duplication or triplication of 2q is rare. The clinical features and chromosomal breakpoints of the 10 previously reported patients varied, and no common phenotype or proximal duplication/triplication 2q syndrome could be defined to date. However, based on four previous patients with different orofacial clefts and our case, a l…
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21
1995
Ectrodactyly is a developmental defect of the distal limbs characterized by marked clinical variability and genetic heterogeneity, also reflected in the observation of different chromosome abnormalities non randomly associated with longitudinal postaxial limb deficiencies. The one most frequently found in patients with split hand-split foot (SHSF) involves chromosome band 7q22. Recently, structural anomalies of chromosome 6q21 have been reported in 2 unrelated patients with SHSF, suggesting that this region may also contain genes responsible for limb development [Braverman et al., 1993. Am J Hum Genet, suppl 53: 410; Viljoen and Smart, 1993. Clin Dysmorph 2: 274-277]. We report on a third p…
Evidence for male XO sex-chromosome system in Pentodon bidens punctatum (Coleoptera Scarabaeoidea: Scarabaeidae) with X-linked 18S-28S rDNA clusters
2004
In scarab beetle species of the genus Pentodon, the lack of analysis of sex chromosomes in females along with the poor characterization of sex chromosomes in the males, prevented all previous investigations from conclusively stating sex determination system. In this study, somatic chromosomes from females and spermatogonial chromosomes from males of Pentodon bidens punctatum (Coleoptera: Scarabaeoidea: Scarabaeidae) from Sicily have been analyzed using non-differential Giemsa staining. Two modal numbers of chromosomes were obtained: 2n = 20 and 19 in females and males, respectively. This finding along with other karyological characteristics such as the occurrence of one unpaired, heterotypi…