• Clinical and Experimental Pediatrics
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• 제55권10호
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• pp.393-396
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• 2012

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.31-33
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• 2017

Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental disomy (UPD). Noninvasive prenatal test (NIPT) reflects the genomic constitution of the placenta, not of the fetus itself. Feto-placental discrepancy can therefore cause false-positive (trisomy) NIPT results. These discordant NIPT results can serve as important clues to find UPD associated with confined placental mosaicism. We report a case with maternal UPD of chromosome 20, detected by NIPT of 1,000 high-risk pregnancies, carried out for detecting chromosomal abnormalities in Koreans.

• Journal of Genetic Medicine
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• 제2권2호
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• pp.71-77
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• 1998

Comparative genomic hybridization (CGH) can now be applied to detect the origin of extra or missing chromosomal material in cases with common unbalanced aberrations and in prenatal investigations. This method has been used in 13 cases of fetal samples for this study; 3 for amniocytes, 2 for cord blood and 8 for abortus tissues. These samples were previously subjected to GTG-banding. Our study showed aneuploidy in 8 cases, and partial monosomy, partial trisomy or marker chromosome in the remaining 5. The CGH disclosed further small genetic imbalances in 4 of all 13 cases: a prenatal sample showing del(20)(q13) by GTG confirmed a loss of the segment 20p13-pter by CGH; a marker chromosome manifested normal CGH profile; chromosome der(?)(?;15) found in an abortus sample by GTG turned out to be a loss of 15pter-q14 (partial monosomy) and a gain of 10pter-q22 (partial trisomy); the der(15) shown by GTG represented partial trisomy of 3q24-qter. These findings show that CGH is very useful and efficient for cytogenetic investigations of clinical cases.

• 생물정신의학
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• 제8권1호
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• pp.62-70
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• 2001

Alzheimer's disease(AD) is associated with a characteristic neuropathology. The major hallmarks of AD are senile plaques (SPs) and neurofibrillary tangles(NFTs). ${\beta}$-amyloid protein($A{\beta}$) is derived from the proteolysis of amyloid precursor protein(APP) and then converted to SPs. Mature SPs produce cytotoxicity through direct toxic effects and activation of microglia and complement. NFTs are composed of paired helical filaments(PHFs) including abnormally phosphorylated form of the microtubule-associated protein(MAP) tau and increased tau level in cerebrospinal fluid may be observed in most AD. The aggregation of $A{\beta}$ and tau formation are thought to be a final common pathway of AD. Acetylcholine, dopamine, serotonin, GABA and their receptors are associated with AD. Especially, decreased nicotinic acetylcholine receptors(nAChRs) in AD are reported. Genetic lesions associated with AD are mutations in the structural genes for the APP located on chromosome 21, presenilin(PSN)1 located on chromosome 14 and PSN2 located on chromosome 1. Also, trisomy 21, Apo-E gene located on chromosome 19, PMF locus, low density lipoprotein receptor-related protein and ${\alpha}$-macroglobulin increase risk of AD. In this article, we will review about the neurobiology of AD and some newly developed research areas.

• Clinical and Experimental Reproductive Medicine
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• 제24권2호
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• pp.199-210
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• 1997

A study has been carried out to elucidate the cytogenetic characteristics of Down's syndrome in Korea. This study includes 877 cases which were diagnosed as Down's syndrome by the chromosomal analyses at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 13 years from January, 1984 to December, 1996. 1. 83.6% of cases were diagnosed under 1 year of age and 10.9% were between 1 and 4 years old. The overall sex ratio was 3 to 2 (male to female). 2. The most frequent indication for cytogenetic analyses was suspicion of Down's syndrome. The next were growth retardation, congenital heart diseases, congenital anomalies. 3. 88.4% of cases had free trisomy 21. In 6.5%, there was translocation, mostly Robertsonian t(14;21) or t(21;21). 3.9% of cases were mosaics mostly with one normal cell line. 4. Karyotyping was also performed in 204 parents of patients. 6 parents (2.9%) were seen to be translocation carriers of Down's syndrome. We find the unique features of Down's syndrome in Korea that the incidences of free trisomy 21 is relatively lower and that translocation is higher than western countries.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.10-14
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• 2019

Purpose: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. Materials and Methods: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. Results: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was $23.1{\pm}7.8years$ (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. Conclusion: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.

• Journal of Genetic Medicine
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• 제5권2호
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• pp.125-130
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• 2008

목 적: 양수 천자를 이용한 세포 유전학적 결과와 산전 유전 진단의 적응증의 변화를 알아보고자 하였다. 대상 및 방법: 지난 2000년부터 2007년까지 8년간 미즈메디 병원 산부인과에 내원한 산모 중 산전 유전 진단의 적응증에 해당되어 양수 천자를 시행한 2,523예에 대하여 세포 유전학적 검사 결과를 종합 분석하였다. 결 과: 양수 천자를 시행한 2,523예의 적응증은 고령의 산모가 1159예(45.9%)로 가장 많았으며, 다음으로 양성 산모혈청 표지자가 755예(29.9%)로 많았다. 염색체 핵형 분석 결과로는 정상 핵형이 2,413예(95.6%)였으며, 염색체 이상을 보인 경우가 110예(4.4%)였다. 염색체 이상을 보인 110예에서는 수적 이상이 38예(34.5%), 구조적 이상이 65예(59.1%), 모자이시즘이 7예(6.4%)로 나타났다. 위의 110예의 염색체 이상을 적응증에 따라 분석한 결과에는 고령의 산모로 의뢰된 경우가 40예(36.4%)로 가장 많았으며, 양성 산모 혈청 표지자가 36예(32.7%)로 많았다. 결 론: 양수 천자는 산전 진단에 있어서 효과적인 방법이다. 이에 고령 산모, 산모 혈청 표지자 검사 그리고 초음파 소견과 같은 적응증은 태아의 염색체 이상 등을 예측하기 위한 산전 세포 유전학적 진단에 효과적인 요인이 된다. 이에 지난 8년간의 미즈메디에서 시행한 산전 세포 유전학 분석 결과는 산전 진찰 및 유전 상담의 중요한 자료로 활용될 수 있을 것이라 사료된다.

• Journal of Genetic Medicine
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• 제5권1호
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• pp.47-54
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• 2008

목 적 : 속 산전 염색체 이수성 진단을 위한 미배양 양수 세포를 이용한 FISH 검사는 최근 많은 세포유전검사실의 중요한 업무 중의 하나가 되고 있다. 이에 본 저자들은 의뢰된 양수검체 943례에 대하여 산전 염색체 이수성 진단에 있어서 미배양 양수 FISH의 임상적 유용성을 알아보고자 한다. 방 법 : 2004년에서 2006년까지 의뢰된 943례의 양수검체에 대하여 염색체 13번, 18번, 21번에 대한 간기 FISH검사를 시행하였고, 산모의 나이, 임신주수와 적응증을 분석하였다. FISH 결과는 고전적 염색체 핵형분석과 비교분석하였다. 결 과 : 양수 검체 943례에 대해 염색체 핵형분석을 시행한 결과 45례(4.8%)에서 염색체 이상이 발견되었고 이를 간기 FISH결과와 비교하였다. 가족성 염색체 상호전좌와 역위 20례를 제외한 염색체 이상이 25례에서 발견되어 2.7%를 차지하였는데 그 중 6례(0.7%)는 FISH로 검출되지 않았고 19례(2.0%)는 FISH로 검출되었다. 핵형분석결과 다운증후군이 14례(Classic형 13례, 전좌형 1례)로 관찰되었다. 에드워드 증후군은 5례로 모두 FISH로 검출되었고 위양성, 위음성은 없었다(특이도와 민감도, 100%). 결 론 : 본 연구결과는 FISH검사가 염색체 이수성을 진단하는데 있어 고전적 핵형분석법을 보완할 수 있는 신속하고 예민한 방법이지만 FISH검사로 모든 염색체이상을 검출할 수 없으며 위음성결과를 보일수 있는 FISH 검사의 한계에 대하여 신중한 유전상담이 중요하다고 사료된다.