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Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours
TLDR
The identification of the high mobility group protein gene HMGI–C within a 175 kilobase segment of MAR and its genomic organization suggest a link between a member of the HMG gene family and benign solid tumour development.
The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25
TLDR
A novel sequence, designated ASPL, fused in-frame to TFE3 exon 4 (type 1 fusion) or exon 3 (type 2 fusion), supporting ASPL-TFE3 as its oncogenically significant fusion product is established and establishing the utility of this assay in the diagnosis of ASPS.
INCREASED MONOZYGOTIC TWINNING RATE AFTER OVULATION INDUCTION
TLDR
AIO seems to be the first identified biological mechanism influencing the monozygotic twinning rate and was significantly higher in triplets than in twins after AIO.
Distinct haematological disorder with deletion of long arm of No. 5 chromosome
TLDR
So far, the only specific chromosome abnormality in haematological disorders is the Ph1-chromosome, but a constant cytogenetic abnormality associated with a defined clinical syndrome has not been reported.
HMGI-C and HMGI(Y) Immunoreactivity Correlates with Cytogenetic Abnormalities in Lipomas, Pulmonary Chondroid Hamartomas, Endometrial Polyps, and Uterine Leiomyomas and is Compatible with
TLDR
The results of this study demonstrate that expression of HMGI-C or HMGI(Y) is a common occurrence in lipomas, pulmonary chondroid hamartomas, leiomyomata, and endometrial polyps; that it correlates with 12q15 and 6p21 chromosomal alterations (p < 0.001); and that it is compatible with rearrangement of the HMGI (Y) genes.
Pericentric inversions in man: personal experience and review of the literature
TLDR
Bands 2p13, 2q21, 5q31, 6c21, 10q22, and 12q13 were shown to be repeatedly involved in the different studies and, furthermore, breakpoints detected in these different pericentric inversions are summarized and compared to those found in previous reports.
Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media: Further evidence that interruption of early embryonic blood supply
TLDR
The findings in the present patient, i.e. an Adams‐Oliver syndrome associated with a severe neurological deficit, are best explained as resulting from interruption of the early embryonic blood supply.
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
SummaryTwo female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia
The myelodysplastic syndromes: different evolution patterns based on sequential morphological and cytogenetic investigations
Summary Serial morphological and cytogenetic investigations were performed in 46 patients with the myelodysplastic syndrome (MDS). Twenty‐one patients (45.5%) progressed to AML (> 30% blasts in bone
Mantle cell lymphoma: a clinicopathological study of 55 cases
TLDR
This study demonstrates that when selection criteria are strictly applied, mantle cell lymphoma represents a disease entity with a uniform presentation, distinctive morphology, immunophenotype and a strong association with t(11;14)(q13;q32).
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