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Editor—The CHARGE association is an increasingly recognised pattern of congenital anomalies comprising colobomata, heart defects, choanal atresia, retarded growth and development, hypoplastic genitalia, and ear abnormalities/deafness.1 We report a case of CHARGE association with a de novo chromosomal aberration, 46,X,+der(X)t(X;2), which was detected by spectral karyotyping.
The proband, an 11 year old girl, was the term product of a normal pregnancy and delivery to healthy and unrelated parents. She has a healthy younger brother. The family history is unremarkable for mental retardation and congenital malformations. Birth weight was 2870 g and Apgar scores were 7 and 7 at one and five minutes, respectively. Bilateral choanal atresia was diagnosed at birth and she was admitted to hospital with an airway for two months. At the age of 8 months, she underwent a surgical repair but left choanal stenosis persisted. At the age of 5 years, after recurrences of purulent otitis media, she underwent an adenoidectomy. At the age of 8 years, a heart murmur was heard and an echocardiogram and cardiac catheterisation showed minimal valvar pulmonary stenosis and partial anomalous venous return. Renal ultrasound showed mild enlargement of the left kidney with calculi. Because of additional growth and developmental delay, a chromosome analysis was performed on blood lymphocytes at the age of 6 years and …