Question: What are the symptoms of Chromosome 17q deletion ?
Answer: What are the signs and symptoms of Chromosome 17q deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q deletion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the cardiac septa 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Abnormality of the philtrum 90% Aplasia/Hypoplasia of the thumb 90% Aplasia/Hypoplasia of the uvula 90% Asymmetric growth 90% Deviation of finger 90% Hepatomegaly 90% Hypertelorism 90% Low-set, posteriorly rotated ears 90% Melanocytic nevus 90% Microcephaly 90% Micromelia 90% Narrow mouth 90% Optic atrophy 90% Patent ductus arteriosus 90% Premature birth 90% Prominent metopic ridge 90% Respiratory insufficiency 90% Short palm 90% Short stature 90% Short thorax 90% Single transverse palmar crease 90% Upslanted palpebral fissure 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD