Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.

Abstract

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.

• Authors: Barbara Leube, Frank Majewski, Jürgen Gebauer, Brigitte Royer-Pokora
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 123A Issue 3 Pg. 296-300 (Dec 15 2003) ISSN: 1552-4825 [Print] United States
• PMID: 14608653 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics, pathology)
• Aneuploidy
• Chromosome Aberrations
• Chromosomes, Human, Pair 12 (genetics)
• Craniofacial Abnormalities
• Female
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Karyotyping
• Microsatellite Repeats
• Mosaicism
• Muscle Hypotonia (pathology)
• Syndrome
• Trisomy