A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son.
Zou
Ying S
YS
Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.
Newton
Stephanie
S
Milunsky
Jeff M
JM
D002895:Chromosomes, Human, Pair 5; D005260:Female; D020440:Gene Duplication; D015321:Gene Rearrangement; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D008957:Models, Genetic; D009035:Mothers; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D014178:Translocation, Genetic