Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay.
Roberts
Amy E
AE
Irons
Mira B
MB
Kimonis
Virginia E
VE
Mulliken
John B
JB
Morton
Cynthia C
CC
Lee
Charles
C
Listewnik
Marc
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000782:Aneuploidy; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007223:Infant; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D014178:Translocation, Genetic; D014314:Trisomy