Search results
Results from the WOW.Com Content Network
Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. [2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22 .
Full trisomy 9 is a rare and fatal chromosomal disorder caused by having three copies of chromosome number 9.It can be a viable condition if the trisomic component affects only part of the cells of the body or in cases of partial trisomy of the short arm (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy of the short arm ("p") of the chromosome.
29-year-old Caitin Stickels, from Seattle, was born with Schmid-Fraccaro, also known as "Cat Eye Syndrome". The genetic disorder is known to cause an array of issues, the most visible of which ...
Pentasomy X, also known as 49,XXXXX, is a chromosomal disorder in which a female has five, rather than two, copies of the X chromosome.Pentasomy X is associated with short stature, intellectual disability, characteristic facial features, heart defects, skeletal anomalies, and pubertal and reproductive abnormalities.
Fryns-Aftimos syndrome is a genetic conditions that presents with a multitude of varying signs, symptoms and characteristics facies. Commonly characterized by hypertelorism , congenital nonmyopathic ptosis , iris or retinal coloboma , deafness , epilepsy , and pachygyria . [ 5 ]
Get AOL Mail for FREE! Manage your email like never before with travel, photo & document views. Personalize your inbox with themes & tabs. You've Got Mail!
Staggering disease is a usually fatal neurologic syndrome in cats, the study noted, and RusV was only recently identified as its cause. Animals show sign of lesions and the same limb impairment.
Complete trisomy 8 causes severe abnormalities on the developing fetus and can be a cause of miscarriage. [2] [3] Complete trisomy 8 is usually a gestational lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. [4]