A de novo X;13 translocation with abnormal phenotype.
We describe a female infant who presented with hypotonia and developmental delay. Her karyotype showed a de novo balanced translocation between the X chromosome and chromosome 13, with breakpoints at Xq13 and 13p11. The normal X was late replicating in all cells examined. The cause of this patient's abnormal phenotype is discussed.
D000328:Adult; D002478:Cells, Cultured; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014960:X Chromosome