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Hypocalcemia impacts heart failure control in DiGeorge 2 syndrome

Authors

  • Pei-Hsin Chao,

    1. Department of Pediatrics, Chang Gung Memorial Hospital – Kaohsiung Medical Center, Chang Gung University College of Medicine, Taiwan
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  • Mei-Chyn Chao,

    1. Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics & Cytogenetics Lab, Department of Clinical Laboratory, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan
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  • Kao-Pin Hwang,

    1. Department of Pediatrics, Chang Gung Memorial Hospital – Kaohsiung Medical Center, Chang Gung University College of Medicine, Taiwan
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  • Mei-Yung Chung

    1. Department of Pediatrics, Chang Gung Memorial Hospital – Kaohsiung Medical Center, Chang Gung University College of Medicine, Taiwan
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Correspondence
Mei-Yung Chung, M.D., Department of Pediatrics, Chang Gung Memorial Hospital, Kaohsiung, 123, Ta-Pei Road, Niao-Sung Hsiang, Kaohsiung Hsien, Taiwan, R.O.C. Tel: +886-7-731-7123 ext. 8715 | Fax: +886-7-7330-8009 | Email: chungmy@adm.cgmh.org.tw

Abstract

Chromosome 10p terminal deletion accounts for a rare subset among patients presenting with DiGeorge syndrome, and is designated as DiGeorge 2 syndrome. We report a neonate with DiGeorge-like phenotype having a deletion of distal 10p (p13-pter) and a duplication of terminal 3q (q29-qter) derived from paternal balanced translocation between 3q29 and 10p13. She had facial dysmorphism, atrial and ventricular septal defect, impaired T-cell function, hypoparathyroidism, sensorineural hearing loss, renal abnormalities and developmental delay. Her phenotype corresponded well with the typical characteristics of partial monosomy 10p and the small duplication of terminal 3q did not involve the critical region of 3q duplication syndrome. Clinically, hypoparathyroidism-related hypocalcemia lasted for three weeks and resulted in repeated episodes of heart failure. It was not until the calcium level was normalized that her heart failure improved markedly.

Conclusion: Cytogenetic analysis can help to recognize patients early on who have terminal 10p deletion when microdeletion of 22q11.2 is not the cause of DiGeorge syndrome. Hypoparathyroidism-related hypocalcemia impacts heart failure control in partial monosomy 10p and should be managed aggressively on critical care.

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