Format

Send to

Choose Destination
Cytogenet Genome Res. 2012;136(4):237-41. doi: 10.1159/000337520. Epub 2012 Apr 5.

Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.

Author information

1
Eurogenetica S.A., Thessaloniki and Athens, Greece.

Abstract

Tetrasomy 9p is a rare chromosomal syndrome and about 30% of known cases exhibit mosaicism. Approximately 50 of the reported cases with tetrasomy 9p mosaicism show a characteristic facial appearance, growth failure, and developmental delay. However, 3 patients with mosaicism for isochromosome 9p and a normal phenotype have also been reported. We report 2 additional cases of clinically normal young females with tetrasomy 9p mosaicism, one of whom also exhibited X chromosome aneuploidy mosaicism leading to an overall of 6 different cell lines. STR analysis performed on this complex mosaic case indicated that the extra isochromosome was of maternal origin while the X chromosome aneuploidy was of paternal origin, indicating a postzygotic event.

PMID:
22487875
DOI:
10.1159/000337520
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for S. Karger AG, Basel, Switzerland
Loading ...
Support Center