Table 1
Comparison of clinical findings observed in patients with 9q34.3 monosomy or OTCS
| Manifestations | OTCS* | KCL1 | KCL2 | KCL3 | KCL4 | KCL5 | This study | del 9q34.3† |
|---|---|---|---|---|---|---|---|---|
| +, Feature present; −, feature absent; ASD, atrial septal defect; blank, feature not reported or not verified; Cr, cryptorchidism; F, female; FOC, frontal-occipital circumference; GU, genito-urinary ; Hs, hypospadias; KA, kidney anomalies; M, male; Mp, micropenis; n, number observed cases; SS, shawl scrotum; VSD, ventricular septal defect. | ||||||||
| *Frequency of clinical manifestations among reported (n = 28) OTCS patients.18,19,21–23 | ||||||||
| †Only patients with pure deletion 9q34.3 summarised (n = 20), including two related individuals with der(9)t(9;13)(q34.3;p12).1–8,10,11 | ||||||||
| ‡Frequency of feeding difficulties (gastroesophageal reflux, vomiting, aspiration). | ||||||||
| 9q34.3 deletion size (Mb) | 2.300 | 1.550 | 1.050 | 0.700 | 0.700 | |||
| Gender | 14M/14F | M | F | F | F | M | 2M/3F | 11M/9F |
| Age (years) | 14/12 | 3 | 39/12 | 9 | 48/12 | |||
| Gestational age (weeks) | 40 | 32 | 40 | 41 | 42 | |||
| FOC at birth/present (centile) | <5th/<<5th | /<<2th | 25th/<2th | /10th | 10th/15th | |||
| Birth length/present height (centile) | <5th/<5th | 50th/25th | /75th | 25th/80th | ||||
| Weight at birth/present (centile) | <5th/<5th | 5th/ | 50th/95th | 90th/97th | 25th/97th | |||
| Survival at age 2 years | 22/27 (81%) | − | + | + | + | + | 4/5 | 17/20 (85%) |
| Obesity | − | − | − | + | + | 2/5 | 5/19 (26%) | |
| Microcephaly | 19/26 (73%) | + | + | + | + | + | 5/5 | 17/20 (85%) |
| Trigonocephaly | 28/28 (100%) | + | − | − | − | − | 1/5 | 0/20 (0%) |
| Prominent forehead | − | − | − | − | − | 0/5 | 11/20 (55%) | |
| Ear abnormalities | 26/26 (100%) | + | + | − | + | + | 4/5 | 9/20 (45%) |
| Upslanted palpebral fissures | 26/27 (96%) | + | − | − | − | − | 1/5 | 3/16 (19%) |
| Epicanthal folds | 25/28 (89%) | − | + | − | − | − | 1/5 | 5/17 (29%) |
| Synophrys, arched eyebrows | + | + | − | + | + | 4/5 | 13/19 (68%) | |
| Hypertelorism | + | + | + | + | + | 5/5 | 8/19 (42%) | |
| Broad depressed nasal bridge | 21/27 (78%) | + | + | + | + | + | 5/5 | 15/20 (75%) |
| Small nose with anteverted nostrils | 25/28 (89%) | + | + | − | + | + | 4/5 | 14/19 (74%) |
| Midfacial hypoplasia | + | + | − | + | + | 4/5 | 13/20 (65%) | |
| Micrognathia | 18/27 (67%) | − | − | − | − | − | 0/5 | 3/4 (75%) |
| High-arched palate | 21/26 (81%) | + | + | − | − | − | 2/5 | 4/15 (27%) |
| Deep furrow palate | 21/26 (81%) | + | − | − | − | − | 1/5 | |
| Open “carp-like” mouth | + | + | − | + | − | 3/5 | 6/8 (75%) | |
| Large, protruding tongue | + | + | + | − | − | 3/5 | 11/20 (55%) | |
| Widely spaced teeth | + | + | + | + | + | 5/5 | ||
| Short neck | 18/25 (72%) | + | + | − | − | − | 2/5 | 6/18 (33%) |
| Loose redundant skin | 16/22 (73%) | − | − | − | − | − | 0/5 | 4/15 (27%) |
| Haemangiomata | 9/19 (47%) | + | − | + | + | − | 3/5 | 1/1 |
| Upper limb anomalies | 22/25 (88%) | + | − | − | − | − | 1/5 | 3/17 (18%) |
| Single transverse palmar crease | 10/24 (42%) | + | − | − | − | − | 1/5 | 4/17 (24%) |
| Lower limb anomalies | 17/24 (71%) | + | − | + | − | − | 2/5 | 6/20 (30%) |
| Joint laxity | + | − | + | + | − | 2/4 | 5/15 (33%) | |
| Cardiac defects | 16/27 (59%) | + (ASD, VSD) | + (ASD) | − | − | − | 2/5 | 10/20 (50%) |
| Feeding difficulties‡ | 16/22 (70%) | + | + | + | + | + | 5/5 | 3/4 (75%) |
| GU abnormalities | 9/10 (90%) | + (Hs, Mp, Cr, KA) | − | − | − | + (SS) | 2/5 | 8/20 (40%) |
| Abnormal brain MRI | 5/10 (50%) | + | + | − | − | − | 2/5 | 4/16 (25%) |
| Hearing loss | 3/28 (11%) | − | − | − | − | − | 0/5 | 3/19 (16%) |
| Hypotonia | 17/24 (71%) | + | + | + | + | + | 5/5 | 17/20 (85%) |
| Mental retardation/speech delay | 23/24 (96%) | + | + | + | + | + | 5/5 | 17/18 (94%) |
| Seizures | 8/23 (35%) | + | + | − | − | − | 2/5 | 7/19 (37%) |
| Recurrent infections | 15/24 (63%) | + | + | − | − | − | 2/5 | 7/15 (47%) |
