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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.
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Fig. 1.
Cytogenetic analysis of the patient reveals a three-way translocation with an interstitial deletion in 8q23–q24.1.
Fig. 2.
Array CGH analysis of the genome of the patient shows three interstitial deletions from 8q23.1 to 8q24.13, arr[GRCh37] 8q23.1q23.3 (108685855_113293548)x1, arr[GRCh37] 8q23.3(116375596_117136492)x1, and arr[GRCh37] 8q24.11q24.13(118051132_126412116)x1.
Table 1.
Clinical features of this case compared to those of Langer-Giedion and Cornelia de Lange syndromes, and that presented by other patients with complex chromosomal rearrangements
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