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Kousseff syndrome: A causally heterogeneous disorder

Authors

  • K. Maclean,

    1. Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia
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  • M.J. Field,

    1. Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia
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  • A.S. Colley,

    1. Department of Clinical Genetics, Liverpool Health Service, Sydney, Australia
    2. Liverpool Clinical School, University of NSW (UNSW), Sydney, Australia
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  • D.R. Mowat,

    1. Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia
    2. School of Women's and Children's Health, UNSW, Sydney, Australia
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  • D.B. Sparrow,

    1. Developmental Biology Unit, Victor Chang Cardiac Research Institute, Sydney, Australia
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  • S.L. Dunwoodie,

    1. Developmental Biology Unit, Victor Chang Cardiac Research Institute, Sydney, Australia
    2. Department of Biotechnology and Biomolecular Sciences, UNSW, Sydney, Australia
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  • E.P.E. Kirk

    Corresponding author
    1. Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia
    2. School of Women's and Children's Health, UNSW, Sydney, Australia
    3. Developmental Biology Unit, Victor Chang Cardiac Research Institute, Sydney, Australia
    • Department of Medical Genetics, Sydney Children's Hospital, High St, Randwick, NSW, 2031, Australia.
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Abstract

The existence of Kousseff syndrome as a distinct entity has been thrown into doubt by a recent study conducted on the family originally reported by Kousseff. In all cases where chromosome 22q11.2 FISH testing has been undertaken, including the original sibship, a chromosome 22q11.2-microdeletion has been identified. We report two cases of sacral myelomeningocele associated with a conotruncal cardiac anomaly or “Kousseff syndrome.” The first case, a 4-year-old girl, had a sacral myelomeningocele, tetralogy of Fallot, microcephaly, hydrocephalus, hypoplasia of the corpus callosum and mild–moderate developmental delay. Chromosome 22q11.2 FISH was normal and the facial phenotype was not that of velocardiofacial syndrome. Sequencing of the entire coding region of CITED2 did not reveal a mutation. The second case, a male infant, was found to have a 22q11.2-microdeletion. These cases confirm Kousseff syndrome to be a causally heterogeneous disorder. © 2003 Wiley-Liss, Inc.

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