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H. Kawame Yoko Sugio Yuichi Fuyama Yoshihiro Hayashi Hideaki Suzuki Kenji Kurosawa Kihei Maekawa 《Journal of human genetics》1999,44(4):219-224
We report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic abnormality
characterized by mosaicism for several different aneuploidies involving many different chromosomes. He had prenatal-onset
growth retardation, microcephaly, dysmorphic face, seizures, hypotonia, feeding difficulty, and developmental delay. In addition,
he developed bilateral Wilms tumors. Neuroradiological examination revealed Dandy-Walker malformation and hypoplasia of the
cerebral hemisphere and pons. Cytogenetic analysis revealed various multiple numerical aneuploidies in blood lymphocytes,
fibroblasts, and bone marrow cells, together with premature centromere division (PCD). Peripheral blood chromosome analysis
from his parents also showed PCD, but no aneuploid cells. The clinical phenotype and multiple aneuploidies of the patient
may be a consequence of the homozygous PCD trait inherited from his parents. Comparison with previously reported cases of
multiple aneuploidy suggests that mosaic variegated aneuploidy with PCD may be a clinically recognizable syndrome with major
phenotypes being mental retardation, microcephaly, structural brain anomalies (including Dandy-Walker malformation), and possible
cancer predisposition.
Received: January 21, 1999 / Accepted: February 26, 1999 相似文献