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Duplication 3q syndrome (3q21-ter dup)
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Learning difficulties, growth deficiency, hypertrichosis, craniosynostosis, cardiac defects, chest deformities, genital abnormalities, umbilical hernia
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4p- (Wolf-Hirschhorn syndrome)
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Growth deficiency, microcephaly, ocular hypertelorism, cranial asymmetry, learning difficulties, epilepsy, cleft lip/palate, anterior segment dysgenesis
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Duplication 4p syndrome
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Learning difficulties, epilepsy, growth deficiency, obesity, microcephaly, characteristic faces, genital abnormalities, kyphoscoliosis
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Deletion 7p15.1-p21.1
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Cryptophthalmos, cleft lip/palate, choanal atresia
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Trisomy 9 mosaic syndrome
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Joint contractures, congenital heart defects, prenatal growth deficiency, learning difficulties, micrognathia, kyphoscoliosis
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Duplication 10q syndrome
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Ptosis, short palpebral fissures, camptodactyly, learning difficulties, prenatal growth deficiency, microcephaly, heart and kidney malformations
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13q-, 13 ring
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Microcephaly, learning difficulties, bilateral retinoblastoma, cardiac defects, hypospadias, cryptorchidism
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Trisomy 13 (Patau syndrome)
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Holoprosencephaly, moderate microcephaly, coloboma, retinal dysplasia, cyclopia, cleft lip/palate, cardiac defects, genital abnormalities, 86% die within one year.
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Deletion 14q22.1-q23.2
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Pituitary hypoplasia.
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18q-
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Midface hypoplasia, small stature, learning difficulties, hypotonia, nystagmus, conductive deafness, microcephaly, midface hypoplasia, genital abnormalities
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Trisomy 18 (Edwards syndrome)
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Polyhydramnios, single umbilical artery, small placenta, low foetal activity, learning difficulties, hypertonicity, hypoplasia of skeletal muscle, subcutaneous, adipose tissue, prominent occiput, low-set malformed auricles, micrognathia, cardiac defects
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Triploidy syndrome
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Large placenta with hydatidiform changes, growth deficiency, syndactyly, congenital heart defects, brain anomalies/holoprosencephaly
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