• Journal of Genetic Medicine
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• 제15권1호
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• pp.34-37
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• 2018

A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract, and thrombocytopenia absent radius syndrome. We reported a neonate with confirmed intrauterine growth restriction (IUGR), micrognathia, glossoptosis, upper airway obstruction, facial dysmorphism, and eye abnormality at birth as well as developmental delay at the age of 1 year. These clinical manifestations, except for the IUGR and upper airway obstruction, in the neonate indicated a 1q21.1 microdeletion. Here, we report a rare case of a 1q21.1 microdeletion obtained via paternal inheritance in a newborn with upper airway obstruction caused by glossoptosis and tracheal stenosis.

• Journal of Genetic Medicine
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• 제12권1호
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• pp.57-60
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• 2015

CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.

• 대한장애인치과학회지
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• 제14권1호
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• pp.17-21
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• 2018

본 증례는 윌리엄스 증후군 환자의 전신마취 하 치과치료에 대한 보고이다. 윌리엄스 증후군에서 볼 수 있는 특징적인 안모가 관찰되었으며, 전치부 개방교합, 치아 결손, 과도한 치간 공간, 법랑질 저형성 및 법랑질 저광화를 보여 윌리엄스 증후군 환자에서 볼 수 있는 특징적인 구내소견을 보였다. 윌리엄스 증후군 환자는 다양한 의학적인 문제를 동반할 수 있으므로, 치과치료 시 의학적 상태에 대한 고려가 필요하며, 불안 장애 및 과잉행동 등으로 치과치료시 진정법 또는 전신마취가 필요할 수 있다. 진정법 또는 전신마취 시 부작용에 관한 보고들이 존재하며, 따라서 전신마취 전에 특히 심혈관계에 대한 철저한 평가가 필요하고, 생징후에 대한 철저한 감시 및 응급상황에 대한 대비가 필요할 것이다.