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KMID : 1100820180080010029
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Laboratory Medicine Online
2018 Volume.8 No. 1 p.29 ~ p.33
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Langer-Giedion Syndrome with 8q23.1?q24.13 Deletion by Complex Three-way Translocation
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Min Sung-Hee
Seo Eul-Ju
Seol Chang-Ahn
Kim Gu-Hwan
Lee Beom-Hee
Lee Dong-Hyun
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Abstract
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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.
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KEYWORD
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Langer-Giedion syndrome, Three-way translocation, 8q24.1, TRPS1, EXT1
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