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Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier. J Pediatr Genet 2018 Mar;7(1):35-39 PMID: 29441220 PMCID: PMC5809171

Pubmed ID

29441220

DOI

10.1055/s-0037-1605592

Abstract

We report a 4-month-old male proband with a history of prominent forehead, hypertelorism, ear abnormalities, micrognathia, hypospadias, and multiple cardiac abnormalities. Initial microarray analysis detected a concurrent 7p21.3-p22.3 duplication and 13q33.2-q34 deletion indicating an unbalanced rearrangement. However, subsequent conventional cytogenetic studies only revealed what appeared to be a balanced t(12;20)(q24.33;p12.2). Fluorescence in situ hybridization (FISH) using chromosome-specific subtelomere probes confirmed the presence of an unbalanced der(13)t(7;13)(p21.3;q33.2) and balanced t(12;20)(q24.33;p12.2), both of maternal origin. In addition to our unique clinical findings, this case highlights the benefits and limitations of both conventional cytogenetic studies and microarray analysis and how FISH complements each methodology.

Author List

Peterson JF, Geddes GC, Basel DG, Schippman D, Grignon JW Jr, vanTuinen P, Kappes UP

Authors

Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin
Gabrielle Christine Geddes MD Assistant Professor in the Pediatrics department at Medical College of Wisconsin
Ulrike P. Kappes MD, PhD Director, Assistant Professor in the Medicine department at Medical College of Wisconsin




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