1/1454. trisomy 4p due to a paternal t(4p-;16p ) translocation.A patient is described carrying a duplication 4p12 leads to pter due to a paternal translocation: 46,XY,t(4;16) (p12;p13). Involvement of chromosome No. 16 and the heterogeneity of the clinical picture in cases with dup (4p) are discussed.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
2/1454. trisomy 6 associated with aplastic anemia.A clone with 47 chromosomes was observed in the bone marrow of a patient with aplastic anemia and found to be trisomic for chromosome 6. The abnormal clone was not observed in the peripheral blood.- - - - - - - - - - ranking = 2keywords = chromosome (Clic here for more details about this article) |
3/1454. trisomy 9 in a patient with secondary acute myelogenous leukemia detected by fluorescent in situ hybridization.Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that is playing an increasingly important role for augmenting the findings of conventional cytogenetics. Here we present the case history of a patient with the clinical diagnosis of secondary acute myelogenous leukemia whose bone marrow cells were found to be hyperdiploid with an extra C group chromosome in a less than optimal preparation. By using FISH the extra chromosome was unequivocally determined to be a chromosome 9. The detection of trisomy 9 in this patient underscores the utility of FISH as an adjunct to GTG banding in the routine diagnosis and management of leukemic patients.- - - - - - - - - - ranking = 3keywords = chromosome (Clic here for more details about this article) |
4/1454. Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.- - - - - - - - - - ranking = 7keywords = chromosome (Clic here for more details about this article) |
5/1454. De novo mosaic add(3) characterized to be trisomy 14q31-qter using spectral karyotyping and subtelomeric probes.We describe a 19-year-old patient with a de novo mosaic add(3) chromosome (extra material of unknown origin on the 3q). The use of spectral karyotyping and fluorescence in situ hybridization using subtelomeric probes permitted the full characterization of the cytogenetic abnormality. The additional material on 3q was found to originate from 14q31-qter. This is one of the few reported cases with trisomy 14q31-qter and is the first mosaic case.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
6/1454. MYC amplification in two further cases of acute myeloid leukemia with trisomy 4 and double minute chromosomes.We report two cases of trisomy 4 with double minute chromosomes (dmin): one in a woman with acute myeloid leukemia (AML), French-American-British subtype M2, the other in a man with chronic myelomonocytic leukemia. In the former case, many cells without trisomy 4 but with dmin were present, a finding not observed in previously reported cases. In both cases, fluorescence in situ hybridization studies demonstrated the double minutes to be MYC amplicons. Ten cases of AML with trisomy 4 and dmin have now been described; in the five cases investigated, the dmin have been shown to be amplified MYC gene sequences.- - - - - - - - - - ranking = 5keywords = chromosome (Clic here for more details about this article) |
7/1454. Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat.We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis. CONCLUSION: This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.- - - - - - - - - - ranking = 0.0069706449862181keywords = sex (Clic here for more details about this article) |
8/1454. Partial trisomy D: a diagnostic and cytogenetic dilemma.An 18-month-old proposita with psychomotor retardation and other congenital abnormalities is presented. Chromosomal analysis of both parents proved normal. However, the karyotype of the proposita contained 47 chromosomes in both lymphocytes and cultured fibroblasts. The marker chromosome proved to be a deleted No. 14 or 15. Comparison of the reported cases of partial trisomy D indicates that a definitive clinical syndrome is not apparent in either case.- - - - - - - - - - ranking = 2keywords = chromosome (Clic here for more details about this article) |
9/1454. De novo inverted duplication 9p21pter involving telomeric repeated sequences.We report on clinical and cytogenetic findings in a boy with partial 9p duplication, dup(9)(p21pter). Clinical manifestations included facial and hand anomalies and mental retardation. fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) were used to characterize further and confirm the conventional banding data. Investigation by FISH using whole chromosome 9 paint probe showed that the additional material was derived from chromosome 9. Using CGH, a region of gain was found in the chromosome segment 9p21pter. YACs and telomeric probes confirmed the duplicated region. Using the all-human telomeric sequences probe, intrachromosomal telomeric signal was noted on the short arm of the abnormal chromosome 9. Mechanism of formation of the duplication, including intrachromosomal telomeric sequences, is discussed.- - - - - - - - - - ranking = 4keywords = chromosome (Clic here for more details about this article) |
10/1454. trisomy 17 mosaicism in amniotic fluid cells not found at birth in blood but present in skin fibroblasts.This article describes a case of fetal trisomy 17 mosaicism found in amniotic fluid cells in one of two bichorial biamniotic twins without any sonographic anomaly. The extra chromosome 17 was absent from cord blood cells at birth but present on karyotype and in situ hybridization in cultured fibroblasts from skin biopsy. Clinical examination showed a few mild dysmorphic features and a moderate neurological involvement which may rather be related to prematurity. It therefore seemed important to obtain the karyotype on fibroblasts when a trisomic cell line was found in amniocentesis and not confirmed on blood lymphocytes, even in the absence of dysmorphic features. This should help to differentiate a real mosaic from a mosaic restricted to extra-fetal tissues.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
| | Next -> |