Electronic letters
CHARGE association in a child with de novo chromosomal aberration 46,X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping
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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.
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