Summary
An 11-month-old boy was found to have deletion of the short arm of chromosome 18. He was a short hypotonic infant with thoracic hemivertebrae, fused ribs and micropenis in addition to developmental delay, ptosis of the eyelids, epicanthal folds, hypertelorism, large prominent and low-set ears, micrognathia and short neck.
Banding analysis showed the patient's karyotype to be 46, XY,del(18) (p1103).
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Supported in part by a grant from the Ministry of Health and Welfare, Japan.
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Nakano, S., Okuno, T., Hojo, H. et al. 18p− syndrome associated with hemivertebrae, fused ribs and micropenis. Jap J Human Genet 22, 27–32 (1977). https://doi.org/10.1007/BF01908282
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DOI: https://doi.org/10.1007/BF01908282
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