Trisomy 12 mosaicism

Overview

Trisomy 12 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 12 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

The list of signs and symptoms mentioned in various sources for Trisomy 12 mosaicism includes the 24 symptoms listed below: * Asymptomatic * Congenital heart disease * Epstein anomaly * Finger anomalies * Congenital heart defects * Infant death * Premature birth * Multiple congenital anomalies * Fetal death * Unusual facial appearance * Short colon * Heart failure * Large ovaries * Liver anomalies * Short stature * Scoliosis * Atrial septal defect * Pigmented streaks on skin of forearm * Pigmented streaks on skin of lower legs * Neuromuscular abnormalities * Mental retardation * Pituitary malformation * Retarded growth * Growth hormone deficiency Note that Trisomy 12 mosaicism symptoms usually refers to various symptoms known to a patient, but the phrase Trisomy 12 mosaicism signs may refer to those signs only noticable by a doctor.

Causes

Other Possible Causes of these Symptoms * Asymptomatic * Congenital heart defects * Congenital heart disease * Fetal death * Heart failure * Infant death * Mental retardation * Premature birth * Retarded growth * Scoliosis * Short stature * Unusual facial appearance

Diagnosis

These home medical tests may be relevant to Trisomy 12 mosaicism: * Cold & Flu: Home Testing: Home Fever Tests, Home Ear Infection Tests, Home Flu Tests