Table 2.
Summary of patients with overlapping deletions in 3p14.
| Patient | Deletion breakpoints | Developmental delay/ID | Speech impairment | Autistic features | Ear anomalies | Facial dysmorphisms | Limb anomalies | Other distinctive features |
|---|---|---|---|---|---|---|---|---|
| Present Study | 60.461.316–68.515.453 | Severe | Yes | Yes, lack of a social smile, difficulties with eye contact, stereotypic movements | Slightly large and detached ears | Long face, prominent chin, broad forehead, wide mouth, widely spaced upper front teeth | None | motor developmental delay |
|
| ||||||||
| Okumura et al., [9] Twins A/B |
60.472.496–67.385.119 | Severe | No expressive language until the last follow-up at 49 months of age. | Yes | Low-set, posterior rotated | Arched down-slanting eyebrow, prominent forehead, epicanthic folds, micrognathia, hypertelorism, broad nasal brige, short philtrum | Camptodactyly | Twin 2: intestinal malrotation, ventriculomegaly |
|
| ||||||||
|
Schwaibold et al., [10] Twins 1/2 |
58.224.794–64.571.699 | Extend no specified | Undirected double syllables at 2 10/12 years of age | Yes (stereotypic movements) | Low-set, slightly posterior rotated | Arched, downslanting eyebrows, positional plagiocephaly, Twin B: cowlicks | Twin B: Thick left thumb with sites for two nails | Severe feeding problems, small stature, Twin B: hydrocephalus, hypoplasia of corpus callosum |
|
| ||||||||
| Schwaibold et al., [10] Patient 3 |
59.443.171–64.162.112 | Extend no specified | No active speech, he follows simple orders at 18 years of age | Yes, in his adolescence he started to develop eye contact | None | Broad mouth, prominent chin, widely spaced teeth, deep-set eyes, long slender face, flat occiput | High tonicity in lower limbs | Brain anomalies in MRI |
|
| ||||||||
| Tao et al., [11] Patient 6 |
62.665.527–64.890.116 | Severe | N/M | Yes | N/M | N/M | N/M | Epilepsy |
|
| ||||||||
| D2250 | 54.452.525–65.609.348 | Extend no specified | None | N/M | Extend no specified | Wide mouth, high palate, broad forehead, epicanthus, thick eyebrows | Camptodactyly, talipes equinovalgus, valgus, ulnar deviation of hands | High palate, strabismus |
|
| ||||||||
| D250453 | 58.717.185–61.696.115 | Extend no specified | Extend no specified | N/M | Low-set, posterior rotated, abnormality of the pinna | Low anterior hairline, mandibular prognathism, widely spaced teeth | N/M | Nevi, lentigines |
|
| ||||||||
| D255918 | 62.749.576–63.021.934 | Extend no specified | N/M | N/M | N/M | Plagiocephaly | 2-3 toe syndactyly | Scrotal hypoplasia |
|
| ||||||||
| D260004 | 59.813.606–65.296.648 | Extend no specified | Severe | N/M | Low-set, posterior rotated | Prominent forehead/fontal bossing | Clinodactyly | None |
|
| ||||||||
| nssv1605032 | 57.416.265–64.870197 | Extend no specified | N/M | N/M | N/M | N/M | N/M | Muscular hypotonia |
|
| ||||||||
| nssv577904 | 61.956.521–68.514.983 | Extend no specified | N/M | N/M | N/M | N/M | N/M | N/M |
|
| ||||||||
| nssv577902 | 54.079.045–66.046.136 | Extend no specified | N/M | N/M | N/M | N/M | N/M | Failure to thrive, microcephaly |
N/M: Not mentioned.