Pallister–Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p
✍ Scribed by Alison Yeung; David Francis; Olivia Giouzeppos; David J. Amor
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 131 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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Tissue-specific mosaic distribution of an additional isochromosome 12p is the characteristic chromosomal aberration in Pallister-Killian syndrome. Often it is confined to fibroblasts, whereas lymphocytes show a normal karyotype. Two cases are reported in which the distribution of the additional i(12
## Abstract In the neurodevelopmentally impaired population the frequency of small supernumerary marker chromosomes (sSMC) is about 0.3%. To find the origin of a sSMC in a 4‐year‐old boy with Asperger syndrome (AS) a microarray‐based comparative genomic hybridization (aCGH), using a 135K‐feature wh