A chromosome 13q+ in a patient with characteristics of the trisomy 13 syndrome.
作者： H. Hoehn , U. Wolf , H. Schumacher , H. Wehinger
DOI: 10.1007/BF00446411
关键词:
摘要: In a patient with moderate multiple congenital anomalies, chromosome 13q+was consistently present in lymphocytes and fibroblast cells. The additional segment replicates its DNA synchronously the distal late replicating portion of 13. exhibits several features common trisomy 13 syndrome, among others increased HbF low HbA2 values as compared to age matched controls. From these data, it is concluded that carries duplication third long arm. As possible mechanism for origin this duplication, meiotic pairing disorder due repetitive gene constitution discussed.
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