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

E. K. Pivnick, Gopalrao V Velagaleti, R. S. Wilroy, M. E. Smith, S. R. Rose, R. E. Tipton, A. T. Tharapel

Research output: Contribution to journalArticle

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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 was 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.

Original languageEnglish (US)
Pages (from-to)772-778
Number of pages7
JournalJournal of Medical Genetics
Volume33
Issue number9
StatePublished - 1996
Externally publishedYes

Fingerprint

Jacobsen Distal 11q Deletion Syndrome
Hypothyroidism
Growth Hormone
Karyotype
Endocardial Cushion Defects
Chromosomes
Hypothalamic Hormones
Nervous System Malformations
Coloboma
Craniosynostoses
Chromosome Deletion
Cosmids
Chromosomes, Human, Pair 11
Muscle Hypotonia
Paint
Pituitary Hormones
Centromere
Telomere
Eyelids
Hydrocephalus

Keywords

  • Deletion 11(q23q25)
  • Jacobsen syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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. / Pivnick, E. K.; Velagaleti, Gopalrao V; Wilroy, R. S.; Smith, M. E.; Rose, S. R.; Tipton, R. E.; Tharapel, A. T.

In: Journal of Medical Genetics, Vol. 33, No. 9, 1996, p. 772-778.

Research output: Contribution to journalArticle

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