Alfi syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Alfi syndrome. This is caused by a deletion in chromosome 9p. It is probably related to DOCK8 gene deletion. Fully referenced neurology checklist.
Genetics
- This is caused by a deletion in chromosome 9p
- It is probably related to DOCK8 gene deletion
Neurological features
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Dysmorphic appearance
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Skeletal abnormalities
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Cardiac anomalies
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Other features
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Synonym
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References
- Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL. Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet Med 2008; 10:599-611.
- Onesimo R, Orteschi D, Scalzone M, et al. Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. Am J Med Genet A 2012; 158A:2266-2271.
- Swinkels ME, Simons A, Smeets DF, et al. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: delineation of the critical region for a consensus phenotype. Am J Med Genet A 2008; 146A:1430-1438.
- Hoo JJ, Fischer A, Fuhrmann W. Familial tiny 9p/20p translocation: 9p24. The critical segment for monosomy 9p syndrome. Ann Genet 1982; 25:249-252.
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- 1q deletion syndrome
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