Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment

Authors

  • Pen-Hua Su,

    1. Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    2. School of Medicine, Chung Shan Medical University, Taichung, Taiwan
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  • Inn-Chi Lee,

    1. Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    2. School of Medicine, Chung Shan Medical University, Taichung, Taiwan
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  • Shun-Fa Yang,

    1. Department of Medical Research, Chung Shan Medical University Hospital, Taichung, Taiwan
    2. Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan
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  • Yan-Yan Ng,

    1. Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
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  • Chan-Sheng Liu,

    1. Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
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  • Jia-Yuh Chen

    Corresponding author
    1. Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
    2. School of Medicine, Chung Shan Medical University, Taichung, Taiwan
    • Department of Pediatrics, Chung Shan Medical University Hospital, No. 110 Chien-Kuo N. Road, Sec. 1, Taichung 402, Taiwan.
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  • How to Cite this Article: Su P-H, Lee I-C, Yang S-F, Ng Y-Y, Liu C-S, Chen J-Y. 2012. Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment. Am J Med Genet Part A 158A:707–712.

Abstract

We report on a newborn girl with facial anomalies, a congenital heart defect, severe pre- and postnatal growth retardation, feeding problems, and persistent hyperplastic primary vitreous. Cytogenetic analysis by high resolution GTG banding showed extra chromosomal material on the short arm of one chromosome 1 of the patient, but neither parent. SKY and CGH analysis demonstrated that the patient had a de novo 46,XX, der(1)t(1;6)(p36.3; p22). Compared with previously reported cases of partial trisomy 6p22 syndrome, this patient exhibited a unique condition for this syndrome: persistent hyperplastic primary vitreous (PHPV) with retinal detachment. The human genome database was searched for candidate genes and we propose the following nine genes located in the 6p22→6pter region for their potential contribution to the phenotype of partial trisomy 6p22→pter and persistent hyperplastic primary vitreous (PHPV) with retinal detachment: Forkhead box Q1 (FOXQ1), FOXF2, FOXC1, NRN1, EDN1, ATXN1, DEK oncogene, E2F3, and NRNS1. © 2012 Wiley Periodicals, Inc.

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