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  • Deletion of the short arm of chromosome 6 with variable abnormalities, including mental retardation, microcephaly, abnormal cranial sutures, broad nasal bridge, ear and eye anomalies, short neck, pectus excavatum, Poland anomaly (absence of the pectoralis major muscle of its sternal portion associated with ipsilateral shortening of the phalanges with syndactyly), deafness, congenital heart defects, and highly arched palate.
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