• 제목/요약/키워드: Microdeletion

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미숙아에서 발견된 부분형 DiGeorge 증후군 1례 (A Case of Partial DiGeorge Syndrome in Prematurity)

  • 성태정;고은영;김달현;오지은;권영세;임대현;손병관
    • Clinical and Experimental Pediatrics
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    • 제45권3호
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    • pp.383-389
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    • 2002
  • 저자들은 미숙아에서 청색증과 무호흡증으로 입원 치료 하던 중 저칼슘혈증으로 인한 경련이 나타난 환아에게서 흉부 X선 사진과 MRI상 흉선을 관찰할 수 없으면서 T 세포수의 감소와 부갑상선 홀몬수치 감소를 나타내고 소악증, 어구, 부리모양의 코 등의 안면 기형과 합지증, 코 역류증, 폐쇄성 수면 무호흡증, 구개 범인두 부전증 등의 증상을 보이며 염색체 22q11 극소결실이 FISH검사에서 확진된 부분형 DiGeorge 증후군 1예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

CATCH 22 증후군을 가진 어린이의 치과치료 (Dental Treatment of Children with CATCH 22 Syndrome: Case Report)

  • 김미선;이수언;안효정;박재홍;최성철
    • 대한치과마취과학회지
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    • 제13권1호
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    • pp.13-18
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    • 2013
  • CATCH 22 syndrome is a one of the most common chromosome microdeletion syndrome with multiple organ anomalies in humans, with an incidence of approximately 1:4,000 to 1:5,000 live births. It is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22. The phenotypic spectrum of this disorder is wide and various. A 19-year-old patient who showed delayed growth and development (Height; 110 cm, Weight; 18 kg) was referred to our department for the treatment of dental cavities. She was diagnosed as CATCH 22 syndrome in 2004. Physical examination revealed hypertelorism, a short philtrum, thick reflected lips and a small mouth. She underwent cleft palate surgery at 1 year of age and heart valve surgery due to the cardiovascular abnormality at 13 years of age. Convulsive seizures had persisted until 5 years ago but are well controlled at present. Oral examination showed poor oral hygiene, crowding, prolonged retention on #65, 75 and dental cavities on #16, 21, 65, 26, 36, and 46. Cavity treatment and prophylaxis were performed under general anesthesia. Also continuous follow-up checks have been carrying out with the periodic prophylaxis and dental home education. Problems with numerous cavities and gingivitis which can lead to specific risks are common for CATCH 22 syndrome patients. It is therefore of great importance that these patients are referred to foremost physician and dental specialist for the oral care. In addition, preventive treatment targeting the risk of dental cavities and gingivitis is especially important and, as the syndrome involves many different medical problems, the dental treatment should be carried out in collaboration with the patient's physician.

한국인 남성 불임환자에서 Y염색체내 미세결실의 분자유전학적 분석 (Molecular Genetic Analysis of Microdeletions in Y Chromosome from Korean Male Infertility Patients)

  • 윤현수;이정현;서주태;김해정;이동률;전종식;조정현;김문규;이무상;노성일
    • Clinical and Experimental Reproductive Medicine
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    • 제23권3호
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    • pp.367-377
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    • 1996
  • Genes on the long arm of Y chromosome, particularly interval 6, are believed to playa critical role in human spermatogenesis. The objective of this study was to validate a sequenced-tagged site(STS)-mapping strategy for the detection of Yq microdeletion and to use this method to determine the proportion of men with Yq microdeletions in idiopathic, obstructive, nonobstructive azoospermia, severe OATS and in normal males. We analyzed three STS markers mapped to interval 6 within long arm of the Y chromosome from 106 nonobstructive, 30 obstructive azoospermia, 15 severe OATS patients, and normal 42 males in Korean men. By PCR, we tested leukocyte DNA, for the presences of STS markers(DAZ, sY129 and sY134) and SRY gene as internal control. And PCR results were confirmed by Southern hybridization, and were investigated by SSCP analysis for DAZ gene mutation. None of 42 normal males and 30 obstructive azoospermia had microdeletions, Of the 15 severe OATS typed with DAZ, sY129 and sY134, 3(20.0%) patients failed to amplify 1 or more STS markers, and of the 106 nonobstructive azoospermia typed with DAZ, sY129 and sY134, 12(11.3%) patients failed to amplify 1 or more STS markers. From these results, high prevalence(12.4%) of Yq deletion(DAZ, sY129, sY134) in men with nonobstructive idopathic azoospermia and severe OATS were observed in Korean infertility patients. To avoid the infertile offspring by assisted reproductive technique using ICSI or ROSI, genetic diagnosis will be needed in IVF-ET program.

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Systematic review of the clinical and genetic aspects of Prader-Willi syndrome

  • Jin, Dong-Kyu
    • Clinical and Experimental Pediatrics
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    • 제54권2호
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    • pp.55-63
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    • 2011
  • Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

Chromosome 11q13 deletion syndrome

  • Kim, Yu-Seon;Kim, Gun-Ha;Byeon, Jung Hye;Eun, So-Hee;Eun, Baik-Lin
    • Clinical and Experimental Pediatrics
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    • 제59권sup1호
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    • pp.10-13
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    • 2016
  • Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

남성 불임의 유전성 요인 (Genetic Causes in Male Infertility of Human)

  • 김의수;이건수
    • 한국발생생물학회지:발생과생식
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    • 제3권1호
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    • pp.1-13
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    • 1999
  • 남성 불임에 있어서 유전적 결함은 중요한 요인 중 하나이다. 정자 형성은 매우 복잡한 과정을 거치므로 생식세포의 완전한 발달을 조절하는데 많은 유전자들이 관여할 개연성이 높다. 이들 유전자 중에서 불임 유발 유전자는 다른 기능은 정상이되 생식에만 제한적으로 영향을 미치는 유전자들로 정의될 수 있다. 불임 남성에게서 Y 염색체의 미세결실(microdeletion)이 자주 관찰되었고, RBM과 DAZ라는 유전자가 그 위치에 존재함이 알려졌다. 또한 상 염색체에 존재하는 유전자를 인위적으로 변이시킨 생쥐들 가운데 표현형이 웅성불임으로만 국한하여 나타나는 경우가 있는데, 이런 유전자들도 남성 불임 유전자의 후보로 간주할 수 있으며, 실제로 이 유전자들의 변이에 말미암은 남성 불임 환자도 적지 않을 것으로 사료된다.

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Smith-Magenis 증후군 2예 (Two cases of Smith-Magenis syndrome)

  • 정성관;박규희;신혜경;은소희;은백린;유기환;홍영숙;이주원;배숙영
    • Clinical and Experimental Pediatrics
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    • 제52권6호
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    • pp.701-704
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    • 2009
  • Smith-Magenis 증후군(SMS)은 17번 염색체에서 유전물질을 향유한 곳이 일부 떨어져 나가면서 생기는 질환으로, 신체, 발달 및 행동상의 특징적 이상이 나타나는 질환이다. 출생빈도는 출생아 25,000명 중에 한 명 꼴로 출생하는 것으로 알려져 있으나 최근 분자유전학적 진단 기술의 발달로 이 질환의 환자수가 점차 증가되고 있다. 다양한 임상증상과 더불어 수면장애, 경련에 대한 치료뿐만 아니라 적절한 언어, 행동학적 치료가 필요하다. 저자들은 SMS 환아 2예를 진단하고 치료하고 있는 경험이 있어 이를 보고하는 바이다.

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

  • Seo, Go Hun;Kim, Ja Hye;Cho, Ja Hyang;Kim, Gu-Hwan;Seo, Eul-Ju;Lee, Beom Hee;Choi, Jin-Ho;Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
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    • 제59권1호
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    • pp.16-23
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    • 2016
  • Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

  • Park, Sang Hee;Shim, Sung Han;Jung, Yong Wook;Kim, Da Hee;Kang, Su Jin;Park, Sun Ok;Cha, Dong Hyun
    • Journal of Genetic Medicine
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    • 제11권1호
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    • pp.16-21
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    • 2014
  • A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.