Tags

Type your tag names separated by a space and hit enter

49, XXXXY syndrome.
Chang Gung Med J 2004; 27(7):551-4CG

Abstract

49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing.

Authors+Show Affiliations

Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taipei, ROC. houjw741@cgmh.org.tw

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

15508879

Citation

Hou, Jia-Woei. "49, XXXXY Syndrome." Chang Gung Medical Journal, vol. 27, no. 7, 2004, pp. 551-4.
Hou JW. 49, XXXXY syndrome. Chang Gung Med J. 2004;27(7):551-4.
Hou, J. W. (2004). 49, XXXXY syndrome. Chang Gung Medical Journal, 27(7), pp. 551-4.
Hou JW. 49, XXXXY Syndrome. Chang Gung Med J. 2004;27(7):551-4. PubMed PMID: 15508879.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 49, XXXXY syndrome. A1 - Hou,Jia-Woei, PY - 2004/10/29/pubmed PY - 2005/1/6/medline PY - 2004/10/29/entrez SP - 551 EP - 4 JF - Chang Gung medical journal JO - Chang Gung Med J VL - 27 IS - 7 N2 - 49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing. SN - 2072-0939 UR - https://www.unboundmedicine.com/medline/citation/15508879/49_XXXXY_syndrome_ L2 - http://cgmj.cgu.edu.tw/2707/270710.pdf DB - PRIME DP - Unbound Medicine ER -