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] | |||||||||
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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 | – | – | – | – | + | – | – | – | + | + | + | + | + | + | – | – |