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Cat eye syndrome (CES), also known as Schmid-Fraccaro syndrome, is a very rare genetic disorder that’s usually evident at birth. It gets its name from the distinctive eye pattern present in...
21 de mar. de 2017 · Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. Individuals with a normal chromosomal make-up have two 22nd chromosomes, both of which have a short arm, known as 22p, and a long arm, known as 22q.
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 .
Cat-eye syndrome - About the Disease
25 de abr. de 2016 · El síndrome Cat-Eye se caracteriza por dos rasgos principales: atresia anal y coloboma del iris, de los cuales deriva el nombre del síndrome.
17 de sept. de 2022 · Cat eye syndrome is the result of a genetic defect in chromosome 22, which causes an extra chromosome fragment. This article reviews common characteristics and symptoms of cat eye syndrome. You'll also learn the causes, diagnostic methods, treatment, and outlook for the condition.
Cat-eye syndrome. Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys.
