Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation

• Published in: Laboratory Medicine Online Vol. 8; no. 1; pp. 29 - 33
• Main Authors: Min, Sunghee, Seo, Eul-Ju, Seol, Chang Ahn, Kim, Gu-Hwan, Lee, Beom Hee, Lee, Dong-hyun
• Format: Journal Article
• Language: English
• Published: 대한진단검사의학회 2018
• Subjects: 임상병리학
• ISSN: 2093-6338; 2093-6338
• DOI: 10.3343/lmo.2018.8.1.29

Langer–Giedion syndrome is a very rare genetic disorder that is caused by the deletion on chromosome 8q24.1, encompassing the TRPS1 and EXT1 genes. We describe a 5-month-old female patient who was admitted to our hospital with clinodactyly and weakness in both thumbs. The patient’s karyotype was 46,XX,der(4)t(4;19)(q27;q11),der(8)t(4;8)(q27;q22.3),der(19)t(8;19)(q22.3;q11)del(8)(q23q24.1). Multiplex ligation-dependent probe amplification (MLPA) analysis showed that the patient had a heterozygous deletion, rsa 8q24(P064)x1 and rsa 8q24(P245)x1. Array comparative genomic hybridization (CGH) analysis further revealed three interstitial deletions spanning a total of 13.7 Mb at 8q23.1–q24.13. Based on clinical findings and confirmation by cytogenetic, MLPA, and array CGH analyses, the patient was diagnosed with sporadic Langer–Giedion syndrome with three-way translocations. This is the first case of Langer–Giedion syndrome with complex chromosomal rearrangements in Korea. KCI Citation Count: 0