49, XXXXY syndrome.
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.
Hou
Jia-Woei
JW
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taipei, ROC. houjw741@cgmh.org.tw
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D041321:Chromosomes, Human, X / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology; D006554:Hernia, Umbilical / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000473:pathology; D025064:Sex Chromosome Disorders / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D013577:Syndrome; D016896:Treatment Outcome