title: A Case Report of an Infant with Robertsonian Translocation (15;22)(q10;q10) and Literature Review.
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.
authors.affiliation: Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, Korea.
authors.forename: Chi Hyun
authors.initials: CH
authors.lastname: Cho
authors.affiliation: Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea.
authors.forename: Jung-Hee
authors.initials: JH
authors.lastname: Shin
authors.affiliation: Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, Korea.
authors.forename: Myung Hyun
authors.initials: MH
authors.lastname: Nam
authors.affiliation: Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, Korea.
authors.forename: Chae Seung
authors.initials: CS
authors.lastname: Lim
authors.affiliation: Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, Korea.
authors.forename: Chang Kyu
authors.initials: CK
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, Korea.
authors.forename: Yunjung
authors.initials: Y
authors.lastname: Cho
authors.affiliation: Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, Korea.
authors.forename: Young Kee
authors.initials: YK
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, Korea labmd@korea.ac.kr.
authors.forename: Soo Young
authors.initials: SY
authors.lastname: Yoon
mesh_terms: D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007399:Interphase / Q000235:genetics; D007621:Karyotyping; D008677:Metaphase / Q000235:genetics; D014178:Translocation, Genetic