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Interstitial long-arm deletion of chromosome 7 and ectrodactyly
(1989-01-01)
An interstitial deletion of 7q21 was found in a boy with mental retardation, microcephaly, convergent strabismus, micrognathia, genital anomalies, and other findings, including ectrodactyly.
Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the Philadelphia chromosome
(Elsevier B.V., 2002-06-01)
We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. The ...
A case of terminal long arm deletion of chromosome 6
(1990-10-02)
A four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck ...
New recurrent deletions in the PPAR gamma and TP53 genes are associated with childhood myelodysplastic syndrome
(Pergamon-Elsevier B.V. Ltd, 2009-01-01)
Myelodysplastic syndrome (MDS) is a rare hematological malignancy in children. It was performed FISH analysis in 19 pediatric MDS patients to investigate deletions involving the PPAR gamma and TP53 genes. Significant losses ...
Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the Philadelphia chromosome
(Elsevier B.V., 2002-06-01)
We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. the ...
Interclonal Variations in the Molecular Karyotype of Trypanosoma cruzi: Chromosome Rearrangements in a Single Cell-Derived Clone of the G Strain
(2013-05-07)
Trypanosoma cruzi comprises a pool of populations which are genetically diverse in terms of DNA content, growth and infectivity. Inter- and intra-strain karyotype heterogeneities have been reported, suggesting that chromosomal ...
Velocardiofacial syndrome with a rare t(2;22)
(2007-07-01)
Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in ...
Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation
(Elsevier B.V., 2010-11-01)
Deletion of the long arm of chromosome 18 is one of the most common segmental aneusomies compatible with life and usually involves a deletion of the terminal chromosomal region. However, the mechanisms implicated in the ...
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome
(2012-02-01)
Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral ...
Distinct regions of loss of heterozygosity on 22q at different sites of head and neck squamous cell carcinomas
(2002-04-10)
Background: Frequent loss of heterozygosity (LOH) has been reported in many types of cancer, including head and neck carcinomas. Somatic deletions involving specific chromosomal regions are strongly associated with ...