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Partial deletion of the long arm chromosome II in Jacobsen syndrome

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Abstract

The Jacobsen syndrome (11q23←11gter) consists of trigonocephaly, facial dysmorphism, mental retardation, and hypotonia. Seventeen patients with this syndrome have been reported in literature—fourteen female and three male. This report is the eighteenth case with deletion 11q23→11qter in a 11/2 year old male. Such a case has not been reported from India. A review of the reported cases with comparisons of their features has been made.

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Authors and Affiliations

  1. Division of Human Genetics, Department of Anatomy, St. John's Medical College, 560034, Bangalore

    K. S. Reddy & I. M. Thomas (Associate Professor of Anatomy)

  2. National Institute of Mental Health and Neuro Sciences, 560029, Bangalore

    H. S. Narayanan

Authors
  1. K. S. Reddy
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  2. I. M. Thomas
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  3. H. S. Narayanan
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Reddy, K.S., Thomas, I.M. & Narayanan, H.S. Partial deletion of the long arm chromosome II in Jacobsen syndrome. Indian J Pediatr 53, 123–126 (1986). https://doi.org/10.1007/BF02787084

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  • DOI: https://doi.org/10.1007/BF02787084

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