Table 1.
Clinical and molecular cytogenetics data of 12q21 deleted patients described in the present work.
| Patients | 1 | 2 | 3 | 4 | 5 | 6 | 7 |
|---|---|---|---|---|---|---|---|
| Age at last evaluation and sex | 8y (M) | 11y (F) | 16y (M) | 11y (M) | 4y (M) | 7y (F) | 15y (M) |
| Coordinates on chromosome 12 (hg19) | 72634701-91163349 | 74536114-80234335 | 78634010-90918721 | 83359339-85260949 | 84234089-88380156 | 84507288-91264704 | 88264952-89267923 |
| Deletion size (Mb) | 18.53 | 5.7 | 12.28 | 1.9 | 4.15 | 6.76 | 1 |
| Inheritance | Unknown | From mother with similar phenotype | Unknown | Unknown | de novo | de novo | de novo |
| Growth retardation | + | - | - | - | + | - | - |
| DD/ID | Learning and language impairment. | Mild ID, language impairment. | Mild DD | DD | Mild ID. Receptive and expressive language significant delayed. | Learning and language impairments. | Mild ID and language impairment. |
| Prominent forehead | - | - | - | - | + | + | - |
| Hypertelorism | - | - | + | - | - | + | - |
| Low set ears | - | - | - | - | + | - | |
| Short nose | - | + | + | - | - | - | - |
| Other dysmorphisms | Relative macrocephaly. | Dysplastic ears, thick philtrum, large mouth. | - | - | Broad nasal base, low-hanging columella, wide mouth, down-slanting palpebral fissures. Relative microcephaly. | Upturned nose, long philtrum, ogival palate, wide mouth. | Ogival palate, eye asymmetry. |
| 2–3 toe syndactyly + single palmar crease | - | - | - | - | - | - | - |
| Cardiac anomalies | - | - | - | Ostium secundum atrial septal defect. | - | Small oval fossa shunt, interatrial shunt. | - |
| Ectodermal abnormalities | Dry skin, sparse eyebrows. | - | + | - | - | - | - |
| Ocular abnormalities | Astigmatism | Exophthalmos | + | - | Epichantus | Exophoria | Astigmatism |
| Genitourinary anomalies | Horseshoe kidney | - | - | - | - | - | - |
| Brain Abnormalities | - | Anterior intrasellar arachnoid cyst. | - | - | - | - | - |
| Hypotonia | + | + | - | - | + | - | - |
| Other | Severe motor impairment. | Ligamentous laxity. | - | Non-spastic muscle contractures. | Oppositional behaviors, hetero-aggressive attitudes with refusal of body contact. | Asperger, hearing loss, macrosomia. |
Y: years; M: male; F: female; “+”: present; “-”: absent; DD: developmental delay; ID: intellectual disability.