RESUMEN
We report the prenatal diagnosis of a fetus with tetrasomy 5p mosaicism resulting from a supernumerary isochromosome for the short arm of chromosome 5. The pregnancy was terminated and fetal autopsy revealed minor facial abnormalities (long philtrum, up-slanting palpebral fissures and a broad nasal bridge). Cultures were established from fetal skin, kidney, and pancreas for cytogenetic analysis; the i(5p) was observed only in the skin fibroblasts. To our knowledge, this is the fourth report of mosaic tetrasomy 5p and the first report of prenatal diagnosis of this abnormality.
Asunto(s)
Anomalías Múltiples/diagnóstico , Aberraciones Cromosómicas/diagnóstico , Cromosomas Humanos Par 5 , Enfermedades Fetales/diagnóstico , Mosaicismo/diagnóstico , Anomalías Múltiples/genética , Adulto , Amniocentesis , Células Cultivadas , Bandeo Cromosómico , Trastornos de los Cromosomas , Resultado Fatal , Femenino , Enfermedades Fetales/genética , Edad Gestacional , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Mosaicismo/genética , EmbarazoRESUMEN
A four and a half year old male was diagnosed with desmoplastic infantile ganglioglioma. To our knowledge, the cytogenetics of this tumor have never been reported. In our analysis of 40 cells, no consistent clonal abnormalities were observed; however, the majority of cells (25 of 40) showed structural rearrangements (telomere associations) resulting in dicentrics and other derivative chromosomes. Breakpoints most often observed included 17q25 (6 of 40), 19p13.3 (4 of 40), 17p13 (3 of 40), 14q32 (3 of 40), 11q25 (3 of 40), 9p24 (2 of 40), 5q35 (2 of 40), and 22q13 (2 of 40).
Asunto(s)
Neoplasias Encefálicas/genética , Corteza Cerebral , Rotura Cromosómica/genética , Ganglioglioma/genética , Telómero/genética , Translocación Genética/genética , Neoplasias Encefálicas/patología , Preescolar , Ganglioglioma/patología , Humanos , MasculinoRESUMEN
Affected individuals from four kindreds with multiple endocrine neoplasia type 2A syndrome (MEN-2A), were studied for the possible existence of a specific fragile site that might be associated with the MEN-2A gene. The chromosomes were also examined with high-resolution banding with particular emphasis on those chromosomes (#1, 10, 20, and 22) that have been implicated by previous studies from several laboratories as being associated with this disease. There was no evidence for a unique fragile site or a unique high-resolution banding pattern in subjects with MEN-2A. These findings, in combination with all previous cytogenetic studies, indicate that it is unlikely that current techniques will be useful in developing a simple cytogenetic test for this disease.