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KMID : 0387820230300020095
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Clinical Pediatric Hematology-Oncology
2023 Volume.30 No. 2 p.95 ~ p.98
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A Case of Bernard-Soulier Syndrome Associated with 22q11.2 Deletion Syndrome
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Kwon Oh-Cheol
Yoon Su-Hyun
Kang Sung-Han
Kim Hye-Ry
Koh Kyung-Nam
Im Ho-Joon
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Abstract
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22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by microdeletions in the long arm of chromosome 22. It is one of the most common chromosomal micro-deletion disorders. Clinical symptoms are caused by heterozygous deletion of chro-mosome 22q11.2 and include congenital heart diseases and palatal abnormalities. Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder caused by deficiency of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the receptor for von Willebrand factor. Glycoprotein Ib-beta (GPIbβ) gene mutation is one of the causes of BSS, and the GP1bβ gene is located on chromosome 22q11.2. Most 22q11DS patients do not have a bleeding issue since most of them have heterozygous deletion of the GPIbβ gene. However, we report a case in which a child with 22q11.2DS visited the hospital with subgaleal hemorrhage and was diagnosed with Bernard-Soulier syn-drome with GPIbβ gene mutation by a platelet aggregation test and genetic sequencing.
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KEYWORD
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Distal chromosome 22q11.2 deletion syndrome, Bernard Soulier syndrome
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