Table 1. The clinical features of 36 patients with deletions of 6q26-q27.
| Development stages | Pts (# in Ref) | Sex (age range) | Inheritance | Size (Mb) | DD/ID | Structural brain abnormality | Facial dysmorphism | Hypotonia | Learning difficulty or language delay | Seizures | Vertebral or spinal cord malformation | Hydro- cephalus | Micro- cephaly | Joint laxity | Others |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Prenatal | 1 (2) | F(21 gw–TOP) | dn | 9.9 | + | – | |||||||||
| 2 | F(22 gw) | mat | 0.38 | + | + | ||||||||||
| 3 | F(29 gw–nb) | dn | 4.9 | + | |||||||||||
| 4 | M(30 gw–sb) | dn | 4.6 | + | + | + | HK | ||||||||
| Perinatal | 5 | M(20 gw–21 d) | – | 0.24 | + | + | + | + | + | MDKH | |||||
| 6 (10) | F(20 gw–1.5 y) | pat | 1.5 | + | + | + | – | – | |||||||
| 7 (2) | F(22 gw–5m) | pat | 2 | + | – | – | |||||||||
| 8 (1) | M(32 gw–2y) | mat | 3.9 | + | + | + | + | + | – | – | + | ||||
| 9 (12) | M(pn–6 y) | mat | 1.2 | + | + | + | + | + | |||||||
| Prenatal | 100% | ||||||||||||||
| Infant | 10 (4) | F(nb) | dn | 2.2 | + | + | |||||||||
| 11 (6) | F(nb) | dn | 2.2 | + | + | – | + | + | + | – | + | – | – | ||
| 12 (TS1) | M(2 m) | – | 8.93 | + | + | + | + | + | + | ADHD, ASD, HL | |||||
| 13 (3) | F(4 m) | dn | 8.1 | + | + | + | + | + | + | – | macro | – | |||
| Pediatric | 14 | F(4 m–8 y) | dn | 5.7 | + | + | + | + | + | + | EDS | ||||
| 15 (5) | F(8 m) | dn | 5.65 | + | + | + | + | + | + | + | macro | ||||
| 16 (TS2) | M(y) | dn | 7.95 | + | + | + | + | ||||||||
| 17(TS3) | F(2 y) | dn | 1.09 | + | + | + | Toe-walking, autism | ||||||||
| 18 [7] | F(2.5 y) | – | 1.75 | + | + | + | + | + | – | – | – | – | – | ||
| 19 | M[6 y] | dn | 8 | + | + | + | – | + | – | – | + | ||||
| 20 [4] | F(6 y) | – | 6.2 | + | + | + | + | + | – | + | – | + | – | ||
| 21(TS4) | M(6 y) | p/m | 0.08 | + | + | + | + | Scoliosis | |||||||
| 22 (5) | F(7 y) | – | 6 | + | + | + | + | + | + | + | |||||
| 23 (TS5) | M(8 y) | dn | 5.24 | + | + | + | + | IA, VSD, PDA, OCD, ADHD | |||||||
| 24 (TS6) | M(8 y) | – | 0.99 | + | |||||||||||
| 25 (TS7) | (9 y) | – | 9.50 | + | + | + | + | + | + | Poor vision | |||||
| 26 | F(3–12 y) | mat | 0.33 | + | + | + | + | + | – | + | + | ||||
| 27 (2) | M(12.5y) | – | 7 | + | + | + | + | + | – | + | |||||
| 28 (3) | M(13 y) | – | 7 | + | + | + | + | + | – | + | |||||
| 29 (6) | M(15 y) | – | 3 | + | + | + | + | – | – | – | + | ||||
| 30 (1) | F(17 y) | – | 2.15 | + | + | + | + | + | – | – | |||||
| 31 (8) | M(18 y) | – | 2 | + | + | + | + | + | + | ||||||
| Adult | 32 (TS8) | F(23 y) | dn | 6.61 | + | + | + | + | + | VSD, PDA, CD, EP | |||||
| 33 (4) | M(25 y) | – | 6 | + | + | + | + | + | + | ||||||
| 34 (2) | M(25 y) | dn | 5.21 | – | – | – | – | – | – | – | + | – | Anosmia | ||
| 35 (7) | M(33 y) | – | 2.5 | + | + | + | + | + | |||||||
| 36 | M(29 y) | pat | 0.38 | EOPD | |||||||||||
| Postnatal | 81% | 72% | 66% | 63% | 50% | 47% | 31% | 22% | 22% | 19% |
Abbreviations: –, not present; +, present; ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; CD, ciliary dyskinesia; DD, Development delay; dn, de novo; EDS, Ehlers-Danlos syndrome; EOPD, early-onset Parkinson disease; EP, episodes of psychosis; gw, gestational weeks; HK, horseshoe kidney; HL, hearing loss; IA, imperforate anus; ID, Intellectual disability; mac, macrocephaly; mat, maternal; MDKH, multicystic dysplastic kidney and hydronephrosis; nb, newborn; OCD, obsessive-compulsive disorder; p/m, bi-parental; pat, paternal; PDA, patent ductus arteriosus; sb, stillbirth; top, termination of pregnancy; VSD, ventricular septal defect.
Note: Patients (Pts) were collected from this study (TS) and published reports, and number in parenthesis () refers to the patient number in TS and the reports; patients 1, 11, 13, 15, 18, and 20 were from the report of Peddibhotla et al (2015), 20 patient 2 was from Thakur et al (2018), 22 patient 3 was from Li et al (2011), 17 patient 4 was from Valduga et al (2010), 13 patient 5 was from Puvabanditsin et al (2020), 25 patients 6, 9, 22, 27, 28, 29, 31, 33, and 35 were from Conti et al (2013), 19 patients 7 and 8 were from Wadt et al (2012), 18 patient 10 was from Dupé et al (2011), 15 patient 14 was from Mosca et al (2010), 12 patient 19 was from De Cinque et al (2017), 21 patient 26 was from Hanna et al (2019), 24 patient 30 was from Rigon et al (2011), 14 patient 34 was from Gerber et al (2011), 16 and patient 36 was from Williams et al (2018). 23