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49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case.
Acta Paediatr Taiwan 2005 Jan-Feb; 46(1):35-8AP

Abstract

The 49, XXXXY syndrome was first reported in 1960. It represents a rare sex chromosome aneuploidy syndrome. Some consider it as the most severe variant of Klinefelter syndrome (47, XXY). The approximate incidence is 1 in 85,000 male births. The karyotype arises from maternal non-disjunction during both meiosis I and meiosis II. The clinical presentations of 49, XXXXY syndrome include mental deficiency, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features. It might be mistaken for Down syndrome and needs chromosome analysis for confirmation. According to literature review, urinary tract anomaly in association with 49, XXXXY syndrome was extremely rare. Here we report a case of 49, XXXXY with Down syndrome-like facial dysmorphism, who was found to have patent ductus arteriosus and hypotonia. Moreover, he also got grade V vesico-ureteral reflux, R't with hydronephrosis and urinary tract infection. We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed.

Authors+Show Affiliations

Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16302576

Citation

Chang, Jenn-Tzong, et al. "49, XXXXY Syndrome With Severe Vesico-ureteral Reflux and Hydronephrosis: Report of One Case." Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, vol. 46, no. 1, 2005, pp. 35-8.
Chang JT, Chiu PC, Chen YY, et al. 49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case. Acta Paediatr Taiwan. 2005;46(1):35-8.
Chang, J. T., Chiu, P. C., Chen, Y. Y., Chao, M. C., & Hsieh, K. S. (2005). 49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case. Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 46(1), pp. 35-8.
Chang JT, et al. 49, XXXXY Syndrome With Severe Vesico-ureteral Reflux and Hydronephrosis: Report of One Case. Acta Paediatr Taiwan. 2005;46(1):35-8. PubMed PMID: 16302576.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case. AU - Chang,Jenn-Tzong, AU - Chiu,Pao-Chin, AU - Chen,Ying-Yao, AU - Chao,Mei-Chyn, AU - Hsieh,Kai-Sheng, PY - 2005/11/24/pubmed PY - 2006/2/4/medline PY - 2005/11/24/entrez SP - 35 EP - 8 JF - Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi JO - Acta Paediatr Taiwan VL - 46 IS - 1 N2 - The 49, XXXXY syndrome was first reported in 1960. It represents a rare sex chromosome aneuploidy syndrome. Some consider it as the most severe variant of Klinefelter syndrome (47, XXY). The approximate incidence is 1 in 85,000 male births. The karyotype arises from maternal non-disjunction during both meiosis I and meiosis II. The clinical presentations of 49, XXXXY syndrome include mental deficiency, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features. It might be mistaken for Down syndrome and needs chromosome analysis for confirmation. According to literature review, urinary tract anomaly in association with 49, XXXXY syndrome was extremely rare. Here we report a case of 49, XXXXY with Down syndrome-like facial dysmorphism, who was found to have patent ductus arteriosus and hypotonia. Moreover, he also got grade V vesico-ureteral reflux, R't with hydronephrosis and urinary tract infection. We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed. SN - 1608-8115 UR - https://www.unboundmedicine.com/medline/citation/16302576/49_XXXXY_syndrome_with_severe_vesico_ureteral_reflux_and_hydronephrosis:_report_of_one_case_ L2 - http://www.diseaseinfosearch.org/result/47 DB - PRIME DP - Unbound Medicine ER -