Deletion 5q35.3

作者： Robert F. Stratton , Nancy A. Tedrowe , Janet A. Tolworthy , Robert M. Patterson , Stephen G. Ryan

DOI: 10.1002/AJMG.1320510214

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摘要: We report on a 15-month-old boy with de novo deletion of the terminal band 5q, macrocephaly, mild retrognathia, anteverted nares low flat nasal bridge, telecanthus, minor earlobe anomalies, bell-shaped chest, diastasis recti, short fingers, and developmental delay.