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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)