Monsomy 1p36 LPU 020

 

Monosomy 1p36 is the most common terminal deletion syndrome, involving 1 in 10,000 births and is characterised by developmental delay, growth abnormalities and craniofacial dysmorphism.

Deletions range from 1.5 to 10.5Mb. SKI, located at distal 1p36, was deleted in all of the individuals tested who had the syndrome. Deletions in mice have shown phenotypes with some of the features observed in individuals with 1p36 deletion syndrome.

Bir Cevap Yazın

E-posta hesabınız yayınlanmayacak. Gerekli alanlar * ile işaretlenmişlerdir

Şu HTML etiketlerini ve özelliklerini kullanabilirsiniz: <a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <strike> <strong>