Alfi syndrome
Evidence-based neurology checklist on alfi syndrome: Genetics This is caused by a deletion in chromosome 9p It is probably related to DOCK8 gene deletion Neurological features Dysmorphic appearance Skeletal abnormalities Cardiac anomalies Other features Synonym
Genetics
- This is caused by a deletion in chromosome 9p
- It is probably related to DOCK8 gene deletion
Neurological features
Dysmorphic appearance
Skeletal abnormalities
Cardiac anomalies
Other features
Synonym
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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- Fragile X syndrome
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- Trisomy 12p
