Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome.
We found an abnormal 47,XX,+mar karyotype in a patient with developmental delay, hypotonia, microcephaly, failure to thrive, and cognitive delay. When metaphases were hybridized with Prader-Willi and Angelman loci-specific probes by the FISH technique, two sites were noted at opposite positions on the marker chromosome. The alphoid satellite DNA probe documented the isodicentric nature while retention of the p arms on both sides of the marker chromosome was demonstrated by beta satellite probe. The patient does not exhibit manifestations of either syndrome despite the presence of these loci in tetrasomic dose. The present investigation suggests that other marker chromosomes be reevaluated, as their clinical manifestations are quite variable.
Luke
S
S
Division of Genetics, Long Island College Hospital, Brooklyn, New York.
Verma
R S
RS
Giridharan
R
R
Conte
R A
RA
Macera
M J
MJ
D000015:Abnormalities, Multiple / Q000235:genetics; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005183:Failure to Thrive; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics; D009697:Nucleolus Organizer Region / Q000473:pathology; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D016622:Silver Staining; D014314:Trisomy
D005819:Genetic Markers