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At least 163 records · Page 9Linked to original sources
PubMed1975

Trisomy 9q-. a variant of the 9p trisomy syndrome.

A low-birth-weight near-term male infant was found to have a non-familial 47,XY chromosome complement with an extra medium-sized metacentric chromosome slightly larger than a number 16. By Giemsa-trypsin (G-banding) this extra chromosome was determined to be a number 9 with deletion of approximately half of the long arm at region q 22. Chromosome studies on the clinically normal 38-year-old mother showed a balanced translocation with the deleted portion attached onto the distal end of a number 8 short arm, i.e. 46,XX,t(8;9)(p23;q22). Nondisjunction during meiosis of this woman's normal and deleted number 9 chromosomes is the basis of the child's abnormalities. One half-sibling of the child has a balanced translocation similar to that in the mother. Chromosome analyses on 4 others of the child's maternal half-siblings and on the maternal grandmother all showed normal patterns.

Adult↗
PubMed1986

Abnormal neural fold development in mouse trisomy 12 and trisomy 14. II. LM and TEM.

LM and TEM observations of embryonic tissue during the period of cranial neurulation are described in trisomic mouse embryos known to develop exencephaly, and are compared with tissue from normal mouse embryos. The earliest regularly observed differences were visible from the late presomite stage onwards, in the extracellular matrix of the cranial region. These were local defects of the basement membrane of the neural epithelium and enlarged areas of mesenchymal extracellular matrix, with associated abnormalities of mesenchymal cell distribution, cell number and cell contacts, and deficiency of alcian blue staining. Apical neuroepithelial microfilament bundles were observed at later somite-stages in trisomic embryos c.f. = compared with controls, and development of the concave neuroepithelial curvature was correspondingly retarded. Apposition of the neural folds at the forebrain/midbrain junction was never made, even though late neural fold fusion occurred in the hindbrain and ventral forebrain. At later stages (9-20 somites) the neuroepithelial cells showed pyknotic nuclei and dense intracellular inclusions. These are interpreted as secondary effects.

Animals↗
PubMed1998

A study to determine whether trisomy 8, deleted 9q and trisomy 22 are markers of cryptic rearrangements of PML/RARalpha, AML1/ETO and CBFB/MYH11 respectively in acute myeloid leukaemia. MRC Adult Leukaemia Working Party. Medical Research Council.

Acute myeloid leukaemia (AML) patients with either a t(15;17), t(8;21) or inv(16) at diagnosis have 'good-risk' disease with a favourable response to therapy and improved survival. Detection of cryptic fusion genes created by these translocations has been reported where there is no cytogenetic evidence of the corresponding abnormality. It is likely that these cases share the same favourable prognosis. Secondary cytogenetic changes commonly associated with these rearrangements are +8 with t(15;17), del(9q) with t(8;21) and +22 with inv(16). These secondary abnormalities are also observed alone, raising the possibility that they may be markers of underlying cryptic rearrangements. In order to determine the frequency of these rearrangements in AML cases with +8, del(9q) or +22 we have performed an analysis of 63 such patients in whom there was no evidence of a t(15;17), t(8;21) or inv(16) by cytogenetics. No disease-related fusion transcripts were identified, indicating that the secondary changes are rarely markers for cryptic rearrangements.

Acute Disease↗
PubMed2004

Simultaneous appearance of trisomy 8 and trisomy 12 in different cell populations in a patient with untreated B-cell chronic lymphocytic leukemia and myelodysplasia.

The co-existence of spontaneously arising myeloid and lymphoid malignancies in the same patient is rare, and is thought to be mainly due to chance. We describe a patient presenting simultaneously with chronic lymphocytic leukemia (CLL) and myelodysplasia (MDS). Histological, flow cytometric, chromosomal and fluorescent in situ hybridization (FISH) studies show that both cell populations possess different sets of markers consistent with the myeloid and lymphoid differentiation pathways. The question of whether these arose from a single or two separate progenitor cells is explored.

Cell Differentiation↗