Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Table 1 Summary of clinical features found in individuals with common-sized 3q29 microdeletion in this and previous studies.

Feature	Number of individuals in present study with feature	Number of individuals in previous reports with feature	Number of individuals reported to date with feature/Number of individuals reported to date^a
Mild/moderate mental retardation	7	8	15/15
Long, narrow face	0	3	3/15
Short philtrum	0	6	6/15
High nasal bridge	4	5	9/15
Large, low-set, posteriorly rotated ears	4	1	5/15
Speech delay	3	5	8/15
Delayed walking	2	5	7/15
Autism/autistic features	1	3	4/15
Chest-cavity deformities	1	2	3/15
Ataxic gait/gait abnormalities	2	3	5/15
Long, tapering fingers	0	3	3/15
Microcephaly^a	5	2	7/15
Macrocephaly	1	0	1/15
Cleft lip/palate	0	1	1/15
High-arched palate	2	0	2/15
Widely spaced teeth	2	0	2/15
Recurrent middle ear infections	1	1	2/15
Ligamentous laxity	0	1	1/15
Abnormal skin pigmentation	0	1	1/15
Horseshoe kidney	0	1	1/15
Hypospadias	1	1	2/15
Nasal voice	1	1	2/15
Six lumbar vertebrae	0	1	1/15
Cerebral sigmoid venous thrombosis	0	1	1/15

^a Includes previous reports [1-3] and patients reported in this paper; ^b includes reports of progressive microcephaly