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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 ...
Translocation (4;14) and concomitant inv(14) in a basal cell carcinoma
(1991-12-01)
Chromosome analysis of short-term cultures from a basal cell carcinoma was performed. The analyzed karyotypes showed a pseudodiploid clone characterized by a der(4)t(4;14)(p14;p11) and a concomitant inversion of the same ...
Translocation (4;14) and concomitant inv(14) in a basal cell carcinoma
(1991-12-01)
Chromosome analysis of short-term cultures from a basal cell carcinoma was performed. The analyzed karyotypes showed a pseudodiploid clone characterized by a der(4)t(4;14)(p14;p11) and a concomitant inversion of the same ...
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 ...
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.