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Terminal deletion of the long arm of chromosome 1 in a malformed newborn

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Summary

Microcephaly and craniofacial dysmorphia, cleft palate, cardiac malformation, and hypospadias are observed in a child with 46,XY,del (1)(q42).

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Kessel, E., Pfeiffer, R.A., Blanke, W. et al. Terminal deletion of the long arm of chromosome 1 in a malformed newborn. Hum Genet 42, 333–337 (1978). https://doi.org/10.1007/BF00291316

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  • DOI: https://doi.org/10.1007/BF00291316

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