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Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder
(2002-06-01)
We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular ...
The hnRNP Q-like gene is retroinserted into the B chromosomes of the cichlid fish Astatotilapia latifasciata
(2017-10-01)
B chromosomes are dispensable elements observed in many eukaryotic species, including the African cichlid Astatotilapia latifasciata, which might have one or two B chromosomes. Although there have been many studies focused ...
Inherited pericentric inversion of chromosome 16 in chronic phase of chronic myeloid leukaemia
(Pergamon-elsevier Science LtdOxfordInglaterra, 2006)
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.
Genomic Signatures Predict Poor Outcome in Undifferentiated Pleomorphic Sarcomas and Leiomyosarcomas
(2013-06-25)
Undifferentiated high-grade pleomorphic sarcomas (UPSs) display aggressive clinical behavior and frequently develop local recurrence and distant metastasis. Because these sarcomas often share similar morphological patterns ...
Genomic Signatures Predict Poor Outcome in Undifferentiated Pleomorphic Sarcomas and Leiomyosarcomas
(2013-06-25)
Undifferentiated high-grade pleomorphic sarcomas (UPSs) display aggressive clinical behavior and frequently develop local recurrence and distant metastasis. Because these sarcomas often share similar morphological patterns ...
A Rare Case of Trisomy 15pter-q21.2 Due to a De Novo Marker Chromosome
(WILEY-LISS, 2010)
Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are ...