We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37.3 qter and monosomy for 7q34->qter. Postnatal examination showed that the female abortus had a cleft lip and palate, and mild dysmorphic features. The clinical phenotype was in agreement with previous descriptions and allowed us to propose a fetal phenotype for this chromosomal abnormality.
Abnormalities, Multiple/embryology ; Abnormalities, Multiple/genetics* ; Abortion, Habitual/genetics ; Abortion, Therapeutic ; Adult ; Chromosome Disorders/embryology ; Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 2/ultrastructure* ; Chromosomes, Human, Pair 7/ultrastructure* ; Female ; Fetal Diseases/genetics ; Fetal Diseases/pathology ; Fetus/abnormalities* ; Human ; Male ; Monosomy* ; Phenotype ; Pregnancy ; Translocation (Genetics)* ; Trisomy*

Medulloblastoma accounts for 20 to 25+ACU- of all intracranial neoplasms in children. The significance of the presence of isochromosome 17q (i(17q)), proliferative potential, apoptotic activity, and expression of c-erbB-2, bd-2, and p53 proteins in predicting long-term survival of patients with medulloblastomas was investigated. Twenty children were divided into two groups (favorable and poor outcome groups). Ten children with favorable outcome (FO) were disease-free during the follow-up period (median: 61.5 months). The other ten children with poor outcome (PO) died of disease progression, having a median survival of 18 months. Fluorescent in situ hybridization (FISH) for i(17q), terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL), and immunohistochemistry for Ki-67, c-erbB-2, bcl-2, and p53 proteins was performed in these patients. Nine out of 17 children showed i(17q). There was no difference in the rate of positive i(17q) between the FO and PO groups. The presence of i(17q) was not significantly related to biological factors that we investigated. Unlike the prominent presence of the proliferative potential and p53 expression in children with PO, apoptotic activity and expression of c-erbB-2 and bcl-2 had no correlation with the outcome.
Adolescence ; Apoptosis ; Brain Neoplasms/pathology ; Brain Neoplasms/mortality ; Brain Neoplasms/genetics+ACo- ; Cell Division ; Child ; Child, Preschool ; Chromosomes, Human, Pair 17/ultrastructure+ACo- ; Chromosomes, Human, Pair 17/genetics ; Comparative Study ; Disease-Free Survival ; Female ; Follow-Up Studies ; Genes, bcl-2+ACo- ; Genes, erbB-2+ACo- ; Genes, p53+ACo- ; Human ; In Situ Hybridization, Fluorescence ; In Situ Nick-End Labeling ; Infant ; Ki-67 Antigen/analysis ; Male ; Medulloblastoma/pathology ; Medulloblastoma/mortality ; Medulloblastoma/genetics+ACo- ; Neoplasm Proteins/analysis ; Prognosis ; Retrospective Studies ; Survival Analysis ; Treatment Outcome

Medulloblastoma accounts for 20 to 25+ACU- of all intracranial neoplasms in children. The significance of the presence of isochromosome 17q (i(17q)), proliferative potential, apoptotic activity, and expression of c-erbB-2, bd-2, and p53 proteins in predicting long-term survival of patients with medulloblastomas was investigated. Twenty children were divided into two groups (favorable and poor outcome groups). Ten children with favorable outcome (FO) were disease-free during the follow-up period (median: 61.5 months). The other ten children with poor outcome (PO) died of disease progression, having a median survival of 18 months. Fluorescent in situ hybridization (FISH) for i(17q), terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL), and immunohistochemistry for Ki-67, c-erbB-2, bcl-2, and p53 proteins was performed in these patients. Nine out of 17 children showed i(17q). There was no difference in the rate of positive i(17q) between the FO and PO groups. The presence of i(17q) was not significantly related to biological factors that we investigated. Unlike the prominent presence of the proliferative potential and p53 expression in children with PO, apoptotic activity and expression of c-erbB-2 and bcl-2 had no correlation with the outcome.
Adolescence ; Apoptosis ; Brain Neoplasms/pathology ; Brain Neoplasms/mortality ; Brain Neoplasms/genetics+ACo- ; Cell Division ; Child ; Child, Preschool ; Chromosomes, Human, Pair 17/ultrastructure+ACo- ; Chromosomes, Human, Pair 17/genetics ; Comparative Study ; Disease-Free Survival ; Female ; Follow-Up Studies ; Genes, bcl-2+ACo- ; Genes, erbB-2+ACo- ; Genes, p53+ACo- ; Human ; In Situ Hybridization, Fluorescence ; In Situ Nick-End Labeling ; Infant ; Ki-67 Antigen/analysis ; Male ; Medulloblastoma/pathology ; Medulloblastoma/mortality ; Medulloblastoma/genetics+ACo- ; Neoplasm Proteins/analysis ; Prognosis ; Retrospective Studies ; Survival Analysis ; Treatment Outcome