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Figure 2 | Italian Journal of Pediatrics

Figure 2

From: "Idiopathic" mental retardation and new chromosomal abnormalities

Figure 2

Pictures of three patients with mental retardation and dysmorphisms with a genetic diagnosis. a) de novo 1p36 deletion in a 22 months old girl; b) The same patient at 3 years of age. Note prominent forehead, very straight eyebrows, epicanthus, deep-set eyes, flat nasal bridge, and thin lips; c) de novo 2q37.1 deletion in a 7 years old girl. Note bushy eyebrows, horizontal palpebral fissures, flat nasal philtrum with prominent columella, thin upper lip, high palate, microretrognatia, and rather asymmetrical ears; d) 22q11.2 duplication inherited from affected mother, in a 4 years old girl. Note high forehead, sparse eyebrows, short and downslanting palpebral fissures, hypertelorism, bulbous nose, pronounced philtrum, fullness of jowls, and large and simplified ears with protruding lobes.

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