Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes.
Two de novo abnormal derivatives of chromosome 15, inv dup(15) and dup(15q) were found in a girl with developmental delay and mild dysmorphological signs. Fluorescence in situ hybridization, using DNA probes of the Prader-Willi/Angelman syndromes (PWS/AS) critical region and chromosome-15-specific alpha-satellite, combined with molecular analysis using dinucleotide repeat polymorphisms within the PWS/AS region and the parent-of-origin specific methylation sites at the locus D15S63, shed light on how the abnormal karyotype was formed. We suggest that a translocation between the two homologues of maternal chromosomes 15 resulted in the formation of dup(15q) and two reciprocal products: an acentric fragment of 15q that was lost and a centric fragment that underwent U-type reunion to form inv dup(15).
Abeliovich
D
D
Department of Human Genetics, Hadassah University Hospital, Hebrew University Medical School, Jerusalem, Israel.
Dagan
J
J
Werner
M
M
Lerer
I
I
Shapira
Y
Y
Meiner
V
V
D017204:Angelman Syndrome / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003434:Crossing Over, Genetic / Q000235:genetics; D015342:DNA Probes / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D011110:Polymorphism, Genetic / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics
D015342:DNA Probes