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Table 1 Clinical information and array-CGH results in Greek children with unexplained mental retardation

From: The use of array-CGH in a cohort of Greek children with developmental delay

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.
38,255 Mb-39,383 Mb
maternal 1.1 Mb