Familial translocation (X;3) (p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study.
High-resolution chromosome banding and chromosomal in situ suppression hybridization were used to identify a derivative X in a 10-month-old female patient with congenital heart defect and slight dysmorphism. The unbalanced karyotype was monosomic for Xp22.3-pter and trisomic for 3p23-pter regions. The derivative X was inherited from the mother carrier of a balanced translocation (X;3) (p22.3;p23). Replication study of the patient showed the abnormal X,t(X;3) to be late replicating, except for the translocated segment. This patient demonstrated only epicanthus and congenital heart defect, despite her partial trisomy 3. The clinical phenotype may be less severe when the X-chromosome is involved in an unbalanced translocation.
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Laboratorio di Citogenetica, Centro Auxologico Italiano, Milan.
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Giardino
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D000328:Adult; D002478:Cells, Cultured; D002871:Chromosome Banding; D002893:Chromosomes, Human, Pair 3; D004303:Dosage Compensation, Genetic; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D007223:Infant; D007621:Karyotyping; D007963:Leukocytes, Mononuclear / Q000166:cytology; D008297:Male; D014178:Translocation, Genetic; D014960:X Chromosome