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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 ...
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 ...
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.
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 ...