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Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature

Authors

  • Anthony P.Y. Liu,

    1. Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
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  • Wing Fai Tang,

    1. Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
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  • Elizabeth T. Lau,

    1. Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
    2. Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China
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  • Kelvin Y.K. Chan,

    1. Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
    2. Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China
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  • Anita S.Y. Kan,

    1. Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
    2. Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China
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  • Kar Yin Wong,

    1. Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
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  • Winnie W.Y. Tso,

    1. Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
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  • Khair Jalal,

    1. Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
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  • So Lun Lee,

    1. Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
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  • Christy S.K. Chau,

    1. Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
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  • Brian H.Y. Chung

    Corresponding author
    1. Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
    • Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China
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  • All authors have no conflict of interest to declare.

Correspondence to:

Brian H.Y. Chung, Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.

E-mail: bhychung@hku.hk

Abstract

We report on a male infant with de novo unbalanced t(5;15) translocation resulting in a 17.23 Mb deletion within 15q11.2–q14 and a 25.12 kb deletion in 5pter. The 15q11.2–q14 deletion encompassed the 15q11.2–q13 Prader–Willi syndrome (PWS) critical region and the recently described 15q13.3 microdeletion syndrome region while the 5pter deletion contained no RefSeq genes. From our literature review, patients with similar deletions in chromosome 15q exhibit expanded phenotype of severe developmental delay, protracted feeding problem, absent speech, central visual impairment, congenital malformations and epilepsy in addition to those typical of PWS. The patient reported herein had previously unreported anomalies of mega cisterna magna, horseshoe kidney and the rare neonatal interstitial lung disease known as pulmonary interstitial glycogenosis. Precise breakpoint delineation by microarray is useful in patients with atypical PWS deletions to guide investigation and prognostication. © 2013 Wiley Periodicals, Inc.

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