Chromosome 8- mosaic trisomy
Overview
A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
Symptoms
* Mental deficiency * Poor coordination * Prominent forehead * Scaphocephaly * Widely spaced eyes * Deeply set eyes * Strabismus * Corneal opacities * Broad nasal root * Enlarged nostrils * Full lips * Small jaw * Cupped ears * Cleft palate * Camptodactyly of fingers * Camptodactyly of toes * Bone defects * Urogenital system defects * Slender trunk * Slender pelvis * Spinal deformities * Scoliosis * Cardiac anomalies * Undescended testes * Agenesis of corpus callosum * Anemia * Leukopenia * Asymptomatic * Multiple congenital anomalies * Mental retardation * Unusual facial appearance * Skeletal anomalies * Congenital heart defects * Kidney malformations * Retarded fetal growth * Increased cancer risk * Delayed development * Speech delay * Long sightedness * Strabismus * Deep creases in sole * Absent corpus callosum * Increased leukemia risk * Reduced muscle tone * Mouth sores * Learning disability * Low set ears * Malformed ears * Broad nose * Bulbous nose * Deformed palate * Congenital cardiovascular disorders * Hydronephrosis * Undescended testes * Abnormal dermatoglyphics * Corneal clouding * Deep hand creases * Wide set eyes * Limited joint motion * Full lips * Small jaw * Narrow shoulders * Narrow pelvis
Diagnosis
* Cold & Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests
Resources
Terms Similar to Chromosome 8, mosaic trisomy: * Trisomy 8 Mosaicism * Uniparental disomy of 8 Source - NIH