Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.
Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-limited mosaicism for a supernumary 12p isochromosome (i12p). Here we report an unusual case with tetrasomy/trisomy/disomy 12p mosaic in fibroblasts and trisomy/disomy 12p mosaic in lymphocytes. The tetrasomy 12p was due to an i12p, the trisomy 12p to a single 12p marker. Both marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridization (FISH). Stability under culturing conditions was studied. DNA-analysis revealed prezygotic maternal origin of the extra 12p material. Clinically, the patient seems to have less retardation than most patients with Pallister-Killian syndrome.
Leube
Barbara
B
Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany. Leube@uni-duesseldorf.de
Majewski
Frank
F
Gebauer
Jürgen
J
Royer-Pokora
Brigitte
B
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000782:Aneuploidy; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D019465:Craniofacial Abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D018895:Microsatellite Repeats; D009030:Mosaicism; D009123:Muscle Hypotonia / Q000473:pathology*; D013577:Syndrome; D014314:Trisomy