Table 1.
Patients reported with recurrent 2q13 microdeletion syndrome
| Referencea | Genomic breakpoints (GRCh37/hg19)b | Size (Mb) | Inh | Phenotype |
|---|---|---|---|---|
| Bisgaard et al. 2007 | Chr 2:111,439,229–113,060,032 | 1.62 | Mat | Dysmorphism, FTT, Sz, hypotonia, DD, Resp insuff |
| Rudd et al. 2009 (5) | Chr 2:111,442,130–113,065,779 | 1.62 | Unk | Dysmorphism, CHD |
| Rudd et al. 2009 (6) | Chr 2:111,442,130–113,065,779 | 1.62 | Pat | Dysmorphism, speech delay, GERD |
| Rudd et al. 2009 (7) | Chr 2:111,442,130–113,065,779 | 1.62 | Unk | Dysmorphism, CHD, hypotonia, microcephaly, stiff joints |
| Yu et al. 2012 (6) | Chr 2:111,426,338–113,046,185 | 1.62 | Mat | Microcephaly, hydrocephalus, DD, ID, hypoglycemia |
| Yu et al. 2012 (7) | Chr 2:111,426,338–113,046,185 | 1.62 | Unk | Macrocephaly, scoliosis, DD, ID, pyloric stenosis |
| Yu et al. 2012 (8) | Chr 2:111,399,243–113,008,023 | 1.61 | Unk | NA |
| Yu et al. 2012 (9) | Chr 2:111,335,143–112,746,937 | 1.45 | De novo | NA |
| Yu et al. 2012 (10) | Chr 2:111,399,243–113,007,823 | 1.61 | Unk | NA |
| Yu et al. 2012 (11) | Chr 2:111,442,130–113,065,779 | 1.62 | Pat | Dysmorphism, DD, broad feet, short toes |
| Yu et al. 2012 (12) | Chr 2:111,442,130–113,065,779 | 1.62 | Unk | CHD, Sz, sleep apnea |
| Yu et al. 2012 (13) | Chr 2:111,442,130–113,065,779 | 1.62 | Unk | Dysmorphism, microcephaly, CHD, hypotonia, microphallus, inguinal hernia, agenesis corpus callosum, apnea |
| Yu et al. 2012 (14) | NA | NA | Mat | Dysmorphism, DD, Sz, hypoglycemia, resp insuff |
| Yu et al. 2012 (15) | Chr 2:111,616,529–112,995,529 | 1.38 | Unk | ASD |
| Costain et al. 2013 | Chr 2:111,388,632–113,115,993 | 1.73 | Unk | Schizophrenia |
| Ma et al. 2014 | Chr 2:111,832,461–122,620,022 | 10.79 | De novo | Dysmorphism, short stature, scoliosis, DD, hypothyroidism, Mullerian agenesis |
| Hladilkova et al. 2015 (1) | Chr 2:111,690,367–113,494,060 | 1.8 | Mat | Dysmorphism (mild), microcephaly, DD |
| Hladilkova et al. 2015 (2) | Chr 2:111,690,367–113,477,596 | 1.79 | Unk | Dysmorphism (mild), ASD, PDD-NOS, DD (mild) |
| Riley et al. 2015 (9) | Chr 2:111,442,176–113,065,741 | 1.62 | Pat | Dysmorphism, microcephaly, short stature, CHD |
| Riley et al. 2015 (10) | Chr 2:111,442,131–113,065,779 | 1.62 | Pat | Dysmorphism, microcephaly, CHD, DD, speech delay, hypotonia, recurrent bronchitis |
| Riley et al. 2015 (11) | Chr 2:111,675,789–113,378,322 | 1.70 | De novo | Macrocephaly, Sz, hypospadias, sleep apnea |
| This report | Chr 2:111,406,838–113,102,594 | 1.70 | Mat | Dysmorphism, microcephaly, short stature, CHD, DD |
ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; CHD, congenital heart disease; DD, developmental delay; FTT, failure to thrive; GERD, gastroesophageal reflux disease; ID, intellectual disability; Inh, inheritance; Mat, maternal; NA, not available; Pat, paternal; PDD-NOS, pervasive developmental delay not otherwise specified; Resp insuff, respiratory insufficiency; RP, retinitis pigmentosa; Sz, seizure disorder; Unk, unknown.
aThe numbers in parentheses indicate the case number in the publication.
bGenomic breakpoints converted to GRCh37/hg19 using LiftOver functionality in the UCSC Genome Browser.