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13 q-syndrome based on loss of specific band was first described by Bain and Gauld in 1963 and may be transmitted if one parents is translocation carrier. We experienced one case of 13p-syndrome with ercephalocele in newborn diagnosed by clinical feature, chromosomal study and autopsy findings. He had multiple anomalies such as microcephaly, hypertelorism, microphthalmia, absent thumbs, clinodactyly, equinovarus, bifid... |
