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Table 1 Clinical features of inherited 3q29 microdeletion syndrome cases identified through affected probands

From: Familial inheritance of the 3q29 microdeletion syndrome: case report and review

  Current study Monfort et al. 2008 [18] Ballif et al. 2008 [17] Li et al. 2009 [14] Digilio et al. 2009 [19] Digilio et al. 2009 [19] Clayton-Smith et al. 2010 [11] Petrin et al. 2011 [20]
Inheritance Maternal Maternal Maternal Paternal Maternal Maternal Maternal Paternal**
GRCh37/hg19 Position (Mb) 195.8–197.0 not provided recurrent deletion 195.9–197.3 195.7–197.3 195.7–197.3 recurrent deletion 195.7–197.3
Clinical features P1 PAR P2 PAR P3/4¥ PAR P5 PAR P6 PAR P7 PAR P8/9* PAR P10 PAR
Autistic features + +
Broad or high nasal root + + + + + + +
Cardiac anomaly + + + +
Chest wall deformity + +
Cleft lip w/ or w/o cleft palate +
Cognitive deficit + + +(mild) + + +(mild) + +
Developmental Delay + + + +(mild) + + + + +
Delayed language/learning + + + + + + +(mild) + + + +
Palpebral fissure defects + + + + +
Ear anomalies + + + + + + +
Feeding difficulties +
GI problems +
Microcephaly + + + + + + +
  1. +, present; −, not mentioned/evaluated; P, patient, PAR parent
  2. ¥ patients 3/4 specific clinical features were not provided; clinical features tabulated here for patients 3/4 were reported as common findings in Ballif et al. 3q29 microdeletion cohort
  3. * patients 8/9 are siblings (maternal grandmother of P8/9, not shown in table, had the same 1.6 Mb microdeletion – noted as the 11th case of parental transmission in a multi-generation family)
  4. **reported as a mosaic loss in nonaffected father of proband
  5. Coordinates of the recurrent deletion are approximately chr3:195,756,054-197,344,662 (GRCh37/hg19; ISCA region-37,443)