Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation
- Author:
Sunghee MIN
1
;
Eul Ju SEO
;
Chang Ahn SEOL
;
Gu Hwan KIM
;
Beom Hee LEE
;
Dong hyun LEE
Author Information
- Publication Type:Case Report
- Keywords: Langer-Giedion syndrome; Three-way translocation; 8q24.1; TRPS1; EXT1
- MeSH: Comparative Genomic Hybridization; Cytogenetics; Female; Humans; Infant; Karyotype; Korea; Langer-Giedion Syndrome; Multiplex Polymerase Chain Reaction; Thumb
- From:Laboratory Medicine Online 2018;8(1):29-33
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
