Article
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.
Journal of medical genetics - 1 Sept 1996
Pivnick E K, Velagaleti G V, Wilroy R S, Smith M E, Rose S R, Tipton R E, Tharapel A T
Abstract excerpt
We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormaliti...
Topics
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, Pair 11
- Eye Abnormalities
- Female
- Growth Hormone
- Humans
- Hypothyroidism
- In Situ Hybridization, Fluorescence
- Infant
- Karyotyping
- Phenotype
- Syndrome