A Case of Prader-Willi Syndrome with an Unusually Large 15q Deletion Due to an Unbalanced Translocation to Chromosome 2 45,XX,-15, der(2) t(2;15)(q37:q13).
- Author:
Jong Kwon KIM
1
;
Hyun PAEK
;
Eun Jung YOO
;
Kwon JUNG
;
Kyu Keun SUN
;
Eun Young KIM
;
Kyoung Sim KIM
;
Yong Wook KIM
;
Yoon Sik KIM
Author Information
1. Department of Pediatrics, Kwangju Chistian Hospital, Gwangju, Korea. kskim000@naver.com
- Publication Type:Case Report
- Keywords:
Prader-Willi syndrome;
Large deletion;
Translocation
- MeSH:
Arm;
Chromosomes, Human, Pair 15;
Chromosomes, Human, Pair 2*;
DNA;
Fathers;
Humans;
Hypogonadism;
Infant, Newborn;
Intellectual Disability;
Muscle Hypotonia;
Obesity;
Polymerase Chain Reaction;
Prader-Willi Syndrome*
- From:Journal of the Korean Society of Neonatology
2007;14(2):247-252
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Prader-Willi syndrome is a disease of chromosome 15, which is characterized by severe hypotonia and feeding difficulty in neonates, followed by development of obesity, mental retardation, and hypogonadism. Approximately 70% of the patients have a paternal deletion on chromosome 15q11-13, which is mainly a microdeletion, and a large deletion due to an unbalanced structural translocation of the proximal long arm of chromosome 15 to several other chromosomes is rarely found. We encountered a neonatal case with Prader-Willi syndrome who had sustained hypotonia and feeding difficulty. On high-resolution chromosome analysis, deletion of the short arm and the proximal part of the long arm of chromosome 15, with unbalanced translocation of the remaining part of chromosome 15(q13-qter) to the terminal part q37 of chromosome 2, was shown to be <45,XX, -15, der(2) t(2;15) (q37:q13)>. Through FISH (Fluorescence in situ hybridization) and methylation-specific DNA PCR, we confirmed the deleted q11-13 was derived from the father.
