title: 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.
abstract: 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) abnormalities, and an endocardial cushion defect, features commonly seen in Jacobsen syndrome. Endocrine evaluation showed growth hormone deficiency and central hypothyroidism. Chromosome analysis showed a 46,XX,del(11)(q23q25) de novo karyotype. Cytogenetically, the deletion appeared to include most of bands 11q23 and q24 and a portion of q25. Using chromosome specific paint probe, a combination of chromosome 11 centromere, telomere, and region specific cosmid probes from 11q14.1-14.3, 11q23.3, and 11q24.1, we have localised the deletion breakpoint to q24.1. Phenotype-karyotype correlation of patients with Jacobsen syndrome and specific deletions of chromosome 11q has enabled us to suggest that the critical region for this syndrome lies in close proximity to cytogenetic band 11q24. Although growth retardation is a consistent finding in 11q deletion syndrome, the presence of hypothalamic-pituitary hormone deficiency has not been reported previously.
authors.affiliation: Department of Pediatrics, University of Tennessee, Memphis 38163, USA.
authors.forename: E K
authors.initials: EK
authors.lastname: Pivnick
authors.forename: G V
authors.initials: GV
authors.lastname: Velagaleti
authors.forename: R S
authors.initials: RS
authors.lastname: Wilroy
authors.forename: M E
authors.initials: ME
authors.lastname: Smith
authors.forename: S R
authors.initials: SR
authors.lastname: Rose
authors.forename: R E
authors.initials: RE
authors.lastname: Tipton
authors.forename: A T
authors.initials: AT
authors.lastname: Tharapel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D013577:Syndrome
chemical_list: D013006:Growth Hormone