A Case of Tetrasomy 9P.
- Author:
Jeong Hae JOO
1
;
Hong Sun JOO
;
Son Sang SEO
;
Sook Ja PARK
Author Information
- Publication Type:Case Report
- Keywords: Tetrasomy 9P; Isochromosome; Mosaicism
- MeSH: Cell Line; Chromosome Aberrations; Cytogenetics; Humans; Infant; Isochromosomes; Mosaicism; Phenotype; Tetrasomy*
- From:Journal of the Korean Society of Neonatology 1997;4(1):72-76
- CountryRepublic of Korea
- Language:English
- Abstract: Supernumerary isochromosome resulting in autosomal tetrasomy are rare and have been described only for 12P, 18P, and 9P. Tetrasomy 9P, initially described by Ghymer et al, is a rare chromosomal aberration that has been described in 20 patients. Affected subjects show both cytogenetic and ohenotypic variability. Some patients have the abnormal cell line in all cells, but many display tissue limited mosaicism. The phenotype varies in severity from prenatal death to mild developmental delay and minor anomalies. We reported a infant with mild manifestations of tetrasomy 9p with brief review of related literatures.
