• Journal of Genetic Medicine
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• 제6권1호
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• pp.87-90
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• 2009

Cardiofaciocutaneous (CFC) 증후군은 누난-관련질환중 하나로서, 심장기형, 특징적 얼굴형태, 피부이상과 발달지연이 동반되는 질환이다. CFC증후군은 성긴 두피, 옅은 눈썹, 안구 돌출이나 안구 진탕 등의 얼굴 형태와 과각화증, 어린선 등의 피부증상으로 다른누난 관련-질환과 임상적으로 구분을 할 수 있으나, 임상적인 구분이 모호한 경우도 있다. 최근 누난 증후군과 누난-관련 증후군의 원인유전자들이 밝혀짐에 따라 이들의 감별 진단에 도움을 받고 있다. 이에 본 저자들은 유전자 검사를 통하여 진단된 CFC증후군 1례를 보고하는 바이며, 누난 증후군과 누난-관련 질환의 유전형과 표현형의 다양성에 대해 논의하고자 한다.

• 대한장애인치과학회지
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• 제7권2호
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• pp.123-126
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• 2011

본 증례는 누난 증후군으로 진단 받은 환아에 대한 내용으로, 성장 지연, 작은 키, 좁고 높은 악궁 등의 특징적인 소견을 보였다. 체중은 8.8kg이었으며 신장은 100cm으로 2세 아이들의 성장 양상과 비슷한 수준을 나타내고 있었다. 이소맹출 되고 있는 매복 상악 측절치에 의해 상악 중절치의 맹출이 방해 받고 있었으며, 다수의 치아우식증이 관찰되었다. 이에 상악궁의 심한 총생이 예상되며, 측절치 치배로 인해 영구 상악 중절치 발육에 영향을 줄 것을 고려하여 전신마취 하에 측절치의 발거 및 치아우식증의 치료를 시행하였다. 주기적인 관찰기간 동안 영구 중절치의 발육에 큰 문제가 나타나지 않았으며, 정상적인 성장이 이루어지는 것을 관찰할 수 있었다.

• Neonatal Medicine
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• 제15권1호
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• pp.89-93
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• 2008

염색체 12번 단완의 중복(첨가)는 매우 드문 질환이며 선천성 기형과 발육 장애를 동반하는 것으로 생각된다. 저자들이 경험한 증례는 다발성 이형성 특색과 선천성 기형을 가지고 태어난 남아로 핵형은 46,XY,add(12) (p13.3)이었다. 출생 시 자궁내 성장부진과 소두증, 소하악증, 구개열, 낮은 변형 귀와 같은 비정상 두개 안면소견을 보였으며, 소음경증, 양발의 rocker bottom 변형 소견을 보였다. 추후 확인한 검사에서 심장 및 신장기형, 신경성 난청 등의 다발성 기형을 보였으며 이후 경련성 질환과 발달 지연 소견으로 외래에서 추적 관찰중이다. 염색체 12번의 첨가에 관련된 증례를 경험하였기에 저자들은 문헌고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.110-116
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• 2021

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

• Clinical and Experimental Pediatrics
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• 제46권5호
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• pp.510-513
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• 2003

저자들은 호흡곤란, 근력저하, 발달지체로 병원에 온 3 개윌된 남아의 염색체 핵형분석에서 46, XY, dup(7)(q36q33)으로 진단된 1례를 경험하였기에 보고하는 바이다.

• Clinical and Experimental Reproductive Medicine
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• 제21권1호
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• pp.131-135
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• 1994

A 27-year-old pregnant woman who had one son with mental and growh retardation and dysmorphic features, was referred for genetic counselling. Cytogenetic investigations revealed 4/22 translocation in the mother(46, XX, t(4;22)(p14;P11)), partial trisomy 4p in son(46, XY, -22, +der(22), t(4;22)(p14;p11)mat). The father had normal karyotype. Amniocentesis and chorionic villi sampling were performed in 3 successive pregnancies. The karyotypes of fetus in 3rd, 4th pregnancies by amniocentesis were 46, XX, t(4;22)(p14;p11) and 46, XX, t(4;22) (p14;p11), and the karyotype of fetus in 5th pregnancy by chorionic villi sampling was found to be 46, XX, -22, +der(22) t(4;22)(p14;p11)mat. We report 3 succesive prenatally diagnosed familial partial trisomy 4p and 4/22 translocation of maternal origin with review of literature.

• Clinical and Experimental Pediatrics
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• 제51권11호
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• pp.1241-1244
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• 2008

7번과 8번 염색체의 전위에 의한 염색체 이상 증후군은 드물게 보고되고 있어 그 임상적 특징에 대한 정보가 적다. 저자들은 비슷한 특이한 외형과 다발성 기형을 보인 오누이에서 동일하게 derivative (8)t(7;8)(q22;p23.3) 염색체 이상 증후군을 관찰하여 그 임상적 특징과 추적 관찰한 경과를 보고하는 바이다.

• Childhood Kidney Diseases
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• 제8권1호
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• pp.57-62
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• 2004

Schinzel-Giedion 증후군은 상염색체 열성 유전을 하는 것으로 추정되는 매우 드문 질환으로서 선천성 수신증, 골격계 이형성, 심한 발달 지연 등이 특징인 이형 증후군이다. 저자들은 유전질환의 병력이 없는 건강한 부모에서 태어난 후 진단된 Schinzel-Giedion 증후군으로서 신 수질의 석회화와 K. pneumoniae에 의한 요로감염이 추가로 발생한 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 대한유전성대사질환학회지
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• 제14권2호
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• pp.156-162
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• 2014

A 25-month-old boy was referred to the hospital due to large head detected on routine physical examination. At visit, dysmorphic facial appearances, including broad nose, prominent forehead, and coarse face, were noted. Nasal obstruction with nasal voice, prominent adenoids, and bilateral middle ear effusions were detected. His abdomen was distended, and liver and spleen were palpated about 3 finger and 2 finger breadths, respectively. He was operated for bilateral inguinal hernias. The motion of both elbow joints was mildly limited on supination and pronation. Urinary level of glycosaminoglycan was elevated and the enzyme activity of iduronate sulfatase in leukocytes was decreased. The mutational analysis of the gene iduronate 2-sulfatase (IDS) revealed c.263G>A (p.Arg88His) mutation. His developmental scale showed delayed development and there was cardiac valvular involvement (tricuspid regurgitation and mitral valve prolapse). After the diagnosis of Hunter syndrome, enzyme replacement therapy started on a weekly basis without progression of any clinical features. Here we report a case of early diagnosed Hunter syndrome detected by large head on routine examination. Thus, it is important to associate Hunter syndrome in the patient with large head especially, if there is the history of bilateral inguinal hernia and prominent adenoids to increase the possibility of early diagnosis and treatment.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.32-37
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• 2022

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant-c.1157C>T (p.Ser386Phe)-of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.