X chromosome- trisomy Xpter Xq13
Overview
X chromosome, trisomy Xpter Xq13: A condition characterised by the duplication of the long arm of chromosome X.
Symptoms
Developmental delays * Seizures * Behavioural problems * Webbed neck * Short stature * Lymphoedema * Microcephaly * Visual disturbance * Small mouth * Hypotonia * Mental retardation * Learning difficulties * Concentration difficulties * Hypogonadism
Diagnosis
The phrase "signs of X chromosome, trisomy Xpter Xq13" should, strictly speaking, refer only to those signs and symptoms of X chromosome, trisomy Xpter Xq13 that are not readily apparent to the patient. The word "symptoms of X chromosome, trisomy Xpter Xq13" is the more general meaning;