Deletion 2q

Partial monosomy of the long arm of chromosome 2 is characterized by relatively nonspecific findings including microcephaly, thin nasal bridge and a short upturned nose, low-set and/or dysplastic ears, micrognathia, and cleft or arched palate; additional features include cardiac and lung malformations, cystic gonads, and digital anomalies. The ophthalmic manifestations include downslanting of the palpebral fissures, epicanthus, narrow palpebral fissures, thick eyebrows and lashes, blepharoptosis and blepharophimosis, corneal opacities, cataracts, optic nerve hypoplasia, nystagmus, and colobomatous microphthalmia.104,116,234,275,404

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