Chromosome 8- trisomy 8q
Overview
A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
Symptoms
* Prominent forehead * Small jaw * Retrognathia * Flat back of skull * Mandibular prognathism * Chin dimple * Large ears * Abnormal pinnae * Deeply set eyes * Strabismus * Widely spaced eyes * Upward slanting space between eyelids * Drooping upper eyelid * Short nose * Beaked nose * Broad nasal base * Flat nasal root * Anteverted nostrils * Bulbous nasal tip * Epicanthal folds * Long philtrum * Large mouth * Down turned corners of mouth * Thin upper lip * Everted lower lip * Arched palate * High palate * Bifid uvula * Short frenulum * Broad neck * Short neck * Pectus deformity * Widely spaced nipples * Extra ribs * Abnormal ribs * Postural foot deformity * Arachnodactyly * Clinodactyly * Brachydactyly * Proximal thumb displacement * Hallux valgus * Abnormal toe posture * Abnormal palmar creases * Plantar furrows * Palmar furrows * Joint contractures * Abnormal patellae * Absent patellae * Kyphosis * Scoliosis * Reduced muscle tone * Redundant skin * Aplasia * Toenail hypoplasia * Hirsuitism * Agenesis of corpus callosum * Seizures * Abnormal EEG * Congenital heart defects * Kidney abnormalities * Hydronephrosis * Undescended testes * Small penis * Small scrotum * Growth retardation * Mental retardation * Long trunk * Narrow trunk * Sloping shoulders * Narrow pelvis
Diagnosis
signs and symptoms of Chromosome 8q 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 8q duplication syndrome symptoms.
Resources
Terms Similar to Chromosome 8, trisomy 8q: * Duplication 8q * Trisomy 8q Source - NIH