46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization.
We report on a patient with a complex heart defect, short webbed neck, multiple other minor features, and a 46,XX,15p+ de novo karyotype. The enlarged short arm of the chromosome 15 was Distamycin-DAPI and C-band negative. Fluorescence in situ hybridization (FISH) using an alpha satellite probe from chromosome 15 demonstrated hybridization only to the normal 15. In situ hybridization using a set of probes that bind to the short arm (17p13) and centromere of chromosome 17 demonstrated that the extra material on chromosome 15, including the centromere, was derived from chromosome 17. Therefore, this patient has a duplication of the centromere and short arm of chromosome 17. Clinical manifestations in this patient were consistent with those in previously described patients with dup (17p).
Spinner
N B
NB
Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania 19104.
Biegel
J A
JA
Sovinsky
L
L
McDonald-McGinn
D
D
Rehberg
K
K
Parmiter
A H
AH
Zackai
E H
EH
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging; D012886:Skull / Q000002:abnormalities; D014178:Translocation, Genetic; D014463:Ultrasonography