A Case Report of an Infant with Robertsonian Translocation (15;22)(q10;q10) and Literature Review
- Authors
- Cho, Chi Hyun; Shin, Jung-Hee; Nam, Myung Hyun; Lim, Chae Seung; Lee, Chang Kyu; Cho, Yunjung; Kim, Young Kee; Yoon, Soo Young
- Issue Date
- 1월-2016
- Publisher
- ASSOC CLINICAL SCIENTISTS
- Citation
- ANNALS OF CLINICAL AND LABORATORY SCIENCE, v.46, no.1, pp.102 - 105
- Indexed
- SCIE
SCOPUS
- Journal Title
- ANNALS OF CLINICAL AND LABORATORY SCIENCE
- Volume
- 46
- Number
- 1
- Start Page
- 102
- End Page
- 105
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/89944
- ISSN
- 0091-7370
- Abstract
- Rob(15; 22) is rare and account for only 0.6% of all Robertsonian translocations. We describe a case with rob(15; 22) in which the phenotype includes generalized hypotonia, respiratory distress, tent shaped upper lips, hyporeflexia and single umbilical artery. Chromosome analysis with peripheral blood was performed, while the karyotype was interpreted as 45, XX, der(15; 22)(q10; q10). In Prader-Willi/Angelman Syndrome FISH studies, deletion of the SNRPN gene was not observed, but deletion of 15p11.2 was noted. Prader-Willi/Angelman Syndrome methylation-specific polymerase chain reaction and chromosomal microarrays showed negative findings. Molecular studies associated with spinal muscular atrophy and progressive muscular dystrophy also showed negative findings. We suggest that rob(15; 22) and deletion of 15p11.2 could be related to clinical presentation like this case.
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Collections - College of Medicine > Department of Medical Science > 1. Journal Articles
- Graduate School > Department of Biomedical Sciences > 1. Journal Articles
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