| Five Cases of Prader-Willi or Angelman Syndrome Diagnosed by FISH in Neonate and Infancy |
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Hee Jung Chung1, Young Rae Kim2, Man Yong Han2, Sook Hwan Lee3 |
1Department of Pediatrics, NHIC Ilsan Hospital, Kyunggi, Korea,
2Department of Pediatrics, Human Genetic Center† of Cha General Hospital, Pochon CHA University, Seoul, Korea
3Department of Obstetrics & Gynecology, Human Genetic Center† of Cha General Hospital, Pochon CHA University, Seoul, Korea |
| 신생아기와 영아기에 FISH법에 의하여 진단된 Prader-Willi 증후군 또는 Angelman 증후군 5례 |
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정희정1, 김영래2, 한만용2, 이숙환3 |
1국민의료보험공단 일산병원 소아과
2포천중문대학교 의과대학 소아과학교실
3포천중문대학교 의과대학 산부인과학교실 |
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| Abstract |
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The Prader-Willi syndrome(PWS) and Angelman syndrome(AS) are clinically distinct syndromes with a shared cytogenetic deletion of chromosome 15q11q13 in most patients. Currently the diagnosis of PWS/AS is clinically suspected and can be confirmed by genetic laboratory tests. However, their diagnosis remains difficult in neonates and early infants because many features of the syndromes change with age and the typical features do not present in this early period. Recently, we experienced 5 cases of PWS/AS, confirmed by fluorescence in situ hybridization (FISH) study in neonates and infants admitted to neonatal intensive care unit due to hypotonia and feeding problems. We believe that these syndromes are far more common than previously thought, and report thes 5 cases to emphasize the importance of early diagnosis in order to provide appropriate counselling for the parents. We recommend molecular genetic studies of PWS/ AS in floppy infants who have feeding problems during the neonate stage and infancy. |
| Key Words:
Prader-Willi and Angelman syndrome, FISH, Floppy infants |
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