Deletion 11q23-->qter and duplication 12q23-->qter are described in a boy with neuroblastoma, multiple congenital anomalies, and mental retardation. The patient has clinical manifestations of 11q deletion and 12q duplication syndromes. The possible involvement of the segment 11q23-->24 in the cause of the neuroblastoma is discussed.
Summary. A balanced de novo translocation t(X;1) is described in a girl with severe haemophilia B. The translocated X was shown cytologically to be preferentially active, and methylation analysis of the DXS255 locus confirmed the skewed X-inactivation with the paternal allele being the active one. Cytogenetic and molecular analysis showed that this chromosomal rearrangement led to the deletion of at least part of the factor IX gene. Therefore, the girl was heterozygous for factor IX deficiency and expression of her clinical phenotype was the result of the inactivation of the normal maternal X chromosome. The localization of one of the X chromosome translocation breakpoints in YAC clone 957F9, that was demonstrated to map distally to the factor IX gene, revealed the complexity of this chromosomal rearrangement.
We report the case of a 3-year-old girl with stage I Wilms' tumor of favorable histology. During the course of chemotherapy 5 months post-diagnosis, an abdominal ultrasonogram revealed hypoechoic areas consistent with hepatic tumor recurrence. A liver biopsy performed to rule out recurrence of the malignancy was suggestive of toxocariasis and the diagnosis was confirmed by serologic testing. Although the patient had few classic signs of visceral larva migrans, her eosinophilia and family social history should have suggested this possibility. This case demonstrates that hepatic toxocariasis should be considered in evaluating hepatic hypoechoic lesions in a child, even when features typical of the disease are absent.
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