Lab Med Online.  2020 Jul;10(3):255-261. 10.3343/lmo.2020.10.3.255.

Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion

Affiliations
  • 1ent of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
  • 2Medical Genetics Center, Asan Medical Center, Seoul, Korea
  • 3Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center Children’s Hospital, Seoul, Korea

Abstract

We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had a variety of clinical features including characteristic facial dysmorphism, cardiac abnormalities, and thrombocytopenia. The karyotype was described as 46,XX,rec(11)dup(11p)inv(11)(p15.1q24.2)pat and methylation-specific multiplex ligation-dependent probe amplification analysis showed duplication of the 11p15.5 region and hypermethylation of imprinting center 1. Chromosomal microarray analysis demonstrated 23.8 Mb duplication on 11pter-p14.3 and 13.8 Mb deletion on 11q23.3-qter. These results were consistent with BWS and JBS, respectively. Because uniparental disomy inherited from paternal pericentric inversion results in simultaneous 11p15.5 duplication and 11q23.3 deletion, appropriate genetic tests are necessary for accurate genetic diagnosis of patients.

Keyword

Beckwith-Wiedemann syndrome; Jacobsen syndrome; Pericentric inversion; 11pter duplication; 11qter deletion; Chromosomal microarray
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