Cat eye syndrome associated with aganglionosis of the small and large intestine.
A newborn male infant is presented with the characteristic phenotype of the cat eye syndrome and a small supernumerary chromosome shorter than a 22. He also had complete absence of parasympathetic ganglion cells throughout the small and large intestine.
Ward
J
J
Sección de Genética Clínica, Complejo Hospitalario Metropolitano de la Caja de Seguro Social, Panamá.
Sierra
I A
IA
D'Croz
E
E
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D003103:Coloboma / Q000235:genetics*; D005726:Ganglia, Parasympathetic / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007420:Intestine, Large / Q000294:innervation*; D007421:Intestine, Small / Q000294:innervation*; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D008297:Male; D013577:Syndrome