Partial deletion of the long arm of chromosome 7: a case report

Partial deletion of the long arm of chromosome 7: a case report

Blog Article

Study advances with a childhood case of partial deletion of the long arm of chromosome 7.The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age.She showed no Mens Socks signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge.Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the Timer Knob Ratchet girl and her father, suggesting paternal origin.

As the patient had no characteristic facial features, 7q deletions had not been considered.This case broadens the range of case presentations for microdeletions of chromosome 7.