A Case Report of an Infant with Robertsonian Translocation (15;22)(q10;q10) and Literature Review

초록

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.