Article
Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.
Human genetics - 1 Jan 2012
Sakazume Satoru, Ohashi Hirofumi, Sasaki Yuki, Harada Naoki, Nakanishi Katsumi, Sato Hidenori, Emi Mitsuru, Endoh Kazushi, Sohma Ryoichi, Kido Yasuhiro, Nagai Toshiro, Kubota Takeo
Abstract excerpt
X-chromosome inactivation (XCI) is an essential mechanism in females that compensates for the genome imbalance between females and males. It is known that XCI can spread into an autosome of patients with X;autosome translocations. The subject was a 5-year-old boy with Prader-Willi syndrome (PWS)-like features including hypotonia, hypo-genitalism, hypo-pigmentation, and developmental delay. G-banding, fluorescent...
Topics
- Biomarkers
- Child, Preschool
- Chromosome Aberrations
- Chromosome Banding
- Chromosomes, Human, Pair 15
- Chromosomes, Human, X
- DNA Methylation
- Gene Expression Profiling
- Genomic Imprinting