Table 1.
Clinical information and array-CGH results in Greek children with unexplained mental retardation
| Case/no | Gender | MR | Array-CGH results | Origin | Estimated size | Clinical Features |
|---|---|---|---|---|---|---|
| 1 | F | Moderate | tripl(18)(q21.1) 42,812 Mb-48,558 Mb |
de novo | 6 Mb | maxillary hypoplasia, small jaw, prominent occiput, hypertelorism, epicanthal folds, downward slanting palpebral fissures with sunken eyes and long eyelashes. Brain MRI scan suggested periventricular leukomalacia (PVL). |
| 2 | M | Severe | dup(10)(q11.1q11.21) 46,568 Mb-51,264 Mb |
de novo | 6 Mb | corpus callosum hypoplasia, mild dilatation of subarachnoid areas and frontotemporal atrophy, severe central hypotonia, ataxia, triangular face, enlarged cranium cerebrale, bifid scrotum, cryptorchidism, ulnar deviation of both elbows, deep palmar creases of hands and feet and syndactyly of 2nd and 3rd toes bilaterally. |
| 3 | F | Moderate | del(2)(q31.2q31.3) 178,393 Mb-182,296 Mb |
de novo | 3,9 Mb | severe hypotonia with microcephaly, Brain MRI scan showing dilated lateral ventricles and diminishing white matter at the level of the trigons bilaterally. Speech limited to simple vocalization with lack of meaning. Her overall developmental level was equivalent to 8 months, which corresponds to a developmental quotient (D.Q.) = 30. |
| 4 | M | Severe | del(6)(p21.2) 38,420 Mb-38,554 Mb |
paternal | 135 kb | mild dysmorphic facial features (epicanthial folds, hypertelorism and auricle abnormalities)normal growth parameters severe mental retardation DQ 45, behavioural disorders with autistic features. motor disorder, hypotonia of central origin, brain malformation,(pituitary cyst), no cognitive improvement after intervention |
| 5 | F | Moderate | dup(15)(q13.3) 29,809 Mb-30,298 Mb |
maternal | 0.5 Mb | mild dysmorphic facial and body features, such as hrinolalia with high-pitched voice, epicanthus, myopia, clinodactyly, and wide internipple distance |
| 6 | F | Moderate | dup(20)(p11.21) 25,375 Mb-25,420 Mb |
paternal | 80 kb | microcephaly, cleft palate, somatometric parameters below the 3rd centile, perimembranous ventricular septal defect, hyperopia, prominent forehead, synorphrys, long eyelashes, bulbous nasal tip, smooth philtrum, thin upper lip, hirsutism, and bilateral clinodactyly of the 5th finger |
| 7 | M | Moderate | dup(16)(q22.1) 68,390 Mb-68,534 Mb |
maternal | 150 kb | dysmorphic facial features, motor disorder, epicanthus, hyperopia |
| 8 | M | Moderate | dup(16)(p11.2) 27,741 Mb -27,919 Mb |
paternal | 200 kb | mild microcephaly and dysmorphic facial features, maxillary hypoplasia, epicanthal folds, up-slanting palpebral fissures, long eyelashes and hypertelorism, auricle abnormalities and his mouth characterized by a long philtrum with gothic palate |
| 9 | F | Severe | del(1q)(31.3) 196,153 Mb-196,532 Mb |
maternal | 400 kb | somatometric parameters below the 3rd centile, mild dysmorphic facial features, auricle abnormalities, developmental and motor delay |
| 10 | M | Severe | del(11)(q21) 94,602, Mb-95,086, Mb |
paternal | 500 kb | multiple gestation (triplex-IVF), dysmorphic facial features, squint, flat filtrum, frontal bossing, epicanthus, auricle abnormalities, macrocephaly, fronto-temporal brain atrophy, motor disorder, hypotonia of central origin, severe mental delay, severe behavioral disorders |
| 11 | M | Severe | dup(17)(q25.1) 70,793 Mb-71,106 Mb |
paternal | 300 kb | neonatal hypotonia, macrocephaly, dolicocephaly, mild dilation of subarachnoid area, severe developmental and motor delay, cryptorchidism, mild dysmorphic, facial features, epicanthus, clinodactyly, short neck, large distance between nipples, short vraxionas |
| 12 | M | Moderate | del(1)(p12) 118,688 Mb-119,490 Mb |
paternal | 800 Kb | mild dysmorphic facial features, bulbous nose, short fingers, clinodactyly, upward slanting palpebral fissures, moderate learning difficulties, language delay with phonological problems and stuttering |
| 13 | M | Severe | dup(3)(p14.1) 65,912 Mb-66,462 Mb |
paternal | 550 kb | severe motor disorder (marked spastic tetraplegia), dysmorphic facial features (prominent forehead, low-set ears, epicanthal folds, flat philtrum, and long eyelashes), severe developmental delay as his developmental level was equivalent to 5 months. |
| dup(22)(q13.1q13.2) 38,255 Mb-39,383 Mb |
maternal | 1.1 Mb |