TABLE II.
Indivuduals With Submicroscopic Isolated Terminal 20q Deletions
| 1 | 2 | 3 | 4 | 5 | 6 | ||
|---|---|---|---|---|---|---|---|
| Reference | 1 | 1 | 2 | 3 | 3 | 4 | This report |
| Orginally reported as | Case 142 | Case 143 | Patient 12 | Patient 1 | Patient 2 | Patient 2 | |
| Size of deletion | 1.33 MB | 1.33 MB | 1.1–1.6 MB | 0.9 Mb del 20q 1.7 Mb dup 20p |
|||
| Inheritance | de novo | de novo | de novo | de novo | de novo | de novo | mat |
| Sex | M | M | M | F | F | F | M |
| Age at report (years) | 11 1/2 | 7 8/12 | 9 | 7 10/12 | 4 | 6 8/12 | 1 3/12 |
| Clinical Indication | MCA | DD, MR | Global DD | Idiopathic MR | Idiopathic MR | Speech delay, strabismus | DD, minor dysmorphism |
| Height | 25th | +0.3 SD | 50th | <5th, 50th for 8 mon | |||
| Weight | 75th | −0.5 SD | 75th | 10–25th | |||
| Head | 50th | −2.3 SD | 25–50th | 25–50th | |||
| Craniofacial dysmorphism | Short/smooth philtrum, arched eyebrows, BL crumpled ear helices, high palate, bulbous nose | Micro/brachy-cephaly, prominent metopic suture, down-turned corners of mouth, anteverted nares | Epicanthic folds, trigonocephaly | Mildly proptosis, Rt plagiocephaly | |||
| Developmental delay (DD) | Y | Global DD | Mild global delay | Severe global delay, delayed motor miles | Learning difficulties | Mild-moderate, global DD | |
| Mental retardation (MR) | Y | Mild | Mild psychomotor | ||||
| Language delay | Mildly retarded w/phonological abnormalities | Absent at 28 mon | Speech delay (simple but complete sentences) | Moderately delayed | |||
| Temporal narrowing | Y | Y | |||||
| Up-slanting palpebral fissures | Y | Y | |||||
| Mild hypertelorism | Y | Y | |||||
| Thin upper lip | Y | Y | Y | ||||
| Constipation | Y | Y | |||||
| Unique features | 2,3 syndactyly, BL 5th finger clinodactyly, single café au lait, frontal upsweep of the hair, eczema | Nystagmus | Thin corpus callosum, great vessels transposition, autistic behaviours, stereotypies of hands, irregular sleep (nocturnal wake-up) | Alternating convergent strabismus, hyperopia, Rt eye astigmatism, joint laxity, anxious, flat feet | Prominent natal cleft, dysphagia, frenulectomy, foot length <3rd, choanal atresia Rt, choanal stenosis Lt |
(1) Ravnan et al. [2005], (2) Roberts et al. [2004], (3) Beri-Deixheimer et al. [2007], (4) Bena et al., 2007
MCA, multiple congenital anomalies; DD, developmental delay; MR, mental retardation; BL, bilateral; Rt, right; Lt, left; Blank, not reported