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Until now, about 19cases of partial trisomy 5q were reported.
The authors experienced a patient of partial trisomy 5q who admitted due to bronchiolitis and had
prominent forehead, microcephaly, ptosis, dysmorphic ear, cryptorchism, flat foot, psychomotor
retardation, convulsion and so on, Brain CT scan showed brain 는trophy.
Chromosome study showed 46, XY, dup (5q)(13-23)
As this is the first case in Korea, it is worthwhile... |
