Hello folks! My turn 4 posting again:D
I'll keep it short and sweet k :D
Past 4 weeks i've been in cytogenetics and i learnt alot on chromosomes and their abnormalities.
In this posting i'll talk bout Wolf Hirschhorn Syndrome.
Wolf Hirschhorn Syndrome is causes by a genetic error in the 4th chromosome. The short arm of chromosome 4 has a partial deletion. This could be inherited from the parent chromosome where there is a translocation. Wolf hirschhorn is also known as 4p- syndrome because the deletion is in the p arm of the chromosome.
Retrieved on 17 August 2008 from, http://www.slh.wisc.edu/cytogenetics/cases/gifs/com_karyotypes/CoMMar97karyo.gif
Wolf hirschhorn syndrome affects fetal growth and developement, hence causing malformations in most body parts.
Facial features are described ad the "Greek warrior helmet" features. Their forehead is usually prominent with wide eyes and broad beaked nose. They are short in stature and have malformations of hands, feet and spine. Likely to have heart defects and malformations or underdevelopment of organs(urinary and genitals).Profound mental retardation, small head and seizures(50% of the individuals are affected) are the brain and muscular features of wolf hirschhorn symdrome.
Retrieved on 17 august 2008, from, http://medgen.genetics.utah.edu/photographs/diseases/high/17_mod.jpg
Wolf Hirschhorn syndrome could be detected by fluorescence in-situ hybridisation(FISH). It detects the deleted portion of the 4p chromosome by molecular probes which fluoresces. Addditional tests could include x-rays to look for bone and internal malformations, renal ultrasonography to examine the kidneys and magnetic resonance for the imaging of brain.
Thats all for this posting. i guess i've explained very briefly, so don't hesitate to ask questions.
Thanks:D
Neela
TG02