Trisomy 18 in a patient with CHARGE association.
CHARGE association is the non-random association of congenital anomalies, including colobomata of the eyes, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia and ear abnormalities. It is usually a sporadic event of unknown cause. We report a neonate with trisomy 18 and apparent CHARGE association. The associated abnormalities made the diagnosis difficult until the chromosomal results became available. Abnormalities such as clenched hands and short palpebral fissures pointed to the possibility of a chromosomal anomaly. The chromosome study revealed trisomy 18. It is important to perform chromosomal studies quickly when diagnosing a patient with apparent CHARGE association who also has other minor anomalies atypical of CHARGE.
Lee
W T
WT
Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
Hou
J W
JW
Yau
K I
KI
Wang
T R
TR
D000015:Abnormalities, Multiple / Q000235:genetics*; D002754:Choanal Atresia / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18; D003103:Coloboma / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014314:Trisomy