Chromosome 7- trisomy 7q
Overview
A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Symptoms
* Frontal bossing * Retrognathia * Small jaw * Delayed closure of fontanelles * Low-set ears * Dysplastic ears * Deep-set eyes * Prominent eyes * Strabismus * Coloboma of iris * Drooping upper eyelid * Widely spaced eyes * Long eyelashes * Short space between eyelids * Downward slanting space between eyelids * Pre-auricular pits * Short nose * Depressed nasal bridge * Upturned nostrils * Long philtrum * Epicanthal folds * Cleft palate * Highly arched palate * Thin vermilion border * Downcurved upper lip * Small mouth * Absence of 12th ribs * Camptodactyly * Short hands * Stiff fingers * Single transverse palmar crease * Hip dislocation * Genu valgum * Talipes equinus * Webbed joints * Joint laxity * Joint stiffness * Scoliosis * Hemivertebrae * Reduced muscle tone * Hydrocephalus * Enlarged cerebral ventricles * Seizures * Hypoplasia of corpus callosum * Cerebellar vermis * Cortical atrophy * Cerebral atrophy * Cerebellar atrophy * Intestinal malrotation * Anterior placement of anus * Hypospadias * Small penis * Scrotum bifidum * Undescended testes * Growth retardation * Mental retardation
Diagnosis
signs and symptoms of Chromosome 7q duplication syndrome 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 7q duplication syndrome symptoms.
Resources
Terms Similar to Chromosome 7, trisomy 7q: * Duplication 7q * Trisomy 7q Source - NIH