Rearrangements involving four chromosomes in a child with congenital abnormalities.
This report describes a complex structural rearrangement between chromosomes X and 1 and a 7;13 translocation (together involving six break points) in a child with multiple congenital defects. Both parents showed a normal chromosome complement, suggesting that the changes may have originated either in a gametic nucleus or at a very early stage of zygotic development.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014960:X Chromosome