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Chromosomal abnormalities associated with anophthalmia/microphthalmia [55,7]. |
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| Chromosomal Abnormality |
Other Features |
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| 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 |
Verma and FitzPatrick Orphanet Journal of Rare Diseases 2007 2:47 doi:10.1186/1750-1172-2-47 |
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