Chromosome 7- monosomy 7q3

Overview

A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.

Symptoms

* Short head * Flat back of head * Broad cheeks * Mental retardation * Small head * Small jaw * Reduced muscle tone * Large face * Arhinencephaly * Long ear * Large ear * Long nose * Large nose * Bulbous nose * Recessed jaw * Small penis * Recurrent infections * Short neck * Short stature * Simian crease * Upslanted fissures * Oedema-papilloedema * Sunken chest * Cleft lip * Holoprosencephaly * Large mouth * Seizures * Squint * Weak eye muscles * Undescended testes * Flat face * Increased muscle tone * Spasticity * Ectopic testes * Abnormally placed nipples * Curved fifth finger * Hernia * Fused fingers

Diagnosis

signs and symptoms of Chromosome 7, monosomy 7q3 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Chromosome 7, monosomy 7q3 symptoms.