Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation
Laboratory Medicine Online
;
: 29-33, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-760475
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polegar
/
Síndrome de Langer-Giedion
/
Citogenética
/
Hibridização Genômica Comparativa
/
Reação em Cadeia da Polimerase Multiplex
/
Cariótipo
/
Coreia (Geográfico)
Limite:
Feminino
/
Humanos
/
Lactente
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Laboratory Medicine Online
Ano de publicação:
2018
Tipo de documento:
Artigo
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