Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Table 2

A list of the 16 genes deleted with a known phenotype on chromosome 14 with the Online Mendelian Inheritance of Man (OMIM) annotation. We believe that CKBE, HFM, MCOP1, and SMALED (noted by asterisk) may be significant in the previously described 14q32 deletion syndrome.

Gene	OMIM annotation	Gene name
PHOBS	608251	Phobia, specific
IBGC1	213600	Basal ganglia calcification, idiopathic (Fahr’s disease)
MNG1	138800	Multinodular goiter-1
CTAA1	115650	Catarct, anterior polar 1
CHDS4	608318	Coronary heart disease, susceptibility to, 4
CKBE*	123270	Creatine kinase, ectopic expression
GEVQ1	608875	Gene expression, variation in, quantitative trait locus on chr. 14
HFM*	164210	Hemifacial microsomia
MCOP1*	251600	Microphthalmia, isolated 1
SMALED*	158600	Spinal muscular atrophy, lower extremity, autosomal dominant
IGHR	144120	Immunoglobulin heavy chain regulator
XRCC3	600675	X-ray repair, complementing defective, repair in Chinese hamster cells-3
INF2	610982	Inverted forming 2
AKT1	164730	Murine thymoma viral (v-akt) oncogene homolog-1
IGHG2	147110	Constant region of heavy chain of IgG2
IGHM	147020	Constant region of heavy chain of IgM