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Table 1 Chromosomal abnormalities associated with anophthalmia/microphthalmia [55,7].

From: Anophthalmia and microphthalmia

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