• 제목/요약/키워드: 1q22

검색결과 593건 처리시간 0.029초

Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier

  • Kim, Do-Hoon;Ha, Jung-Sook;Rhee, Jeong-Ho
    • Journal of Genetic Medicine
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    • 제7권1호
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    • pp.78-81
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    • 2010
  • 완간역위는 드물지 않게 관찰되는 이상이며, 일반적으로 표현형 이상을 일으키지 않으나, 불균형 생식자를 생성하여 반복적인 임신 상실의 원인이 될 수 있다. 22번 염색체의 완간역위는 매우 드물며, 지금까지 몇 례만이 보고되어 있다. 저자들은 반복 임신 상실을 보인 inv(22)(p13q12) 보인자 1례를 보고하고자 한다. 환자는 3번의 초기 임신 상실력이 있었고, 이번 임신에서 rec(22)dup(22q)inv(22)(p13q12) mat 염색체 이상으로 인한 태아수종을 경험하였다. 모체의 22번 완간역위와 이로 인한 태아의 재조합 이상은 위치특이 탐색자(TUPLE1 on 22q11.2, ARSA on 22q13)를 이용한 형광제자리부합법으로 증명하였다. 22번 완간역위와 재조합 22번 염색체는 염색체 검사상 쉽게 간과될 수 있는 이상의 하나로, 정확한 진단을 위해서는 추가 분자유전학적 검사를 비롯해 세심한 주의가 필요하다.

염색체 마이크로어레이를 이용한 표지염색체의 분자세포유전학적 특성 (Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray)

  • 배미현;유한욱;이진옥;홍마리아;서을주
    • Journal of Genetic Medicine
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    • 제8권2호
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    • pp.119-124
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    • 2011
  • 목적: 표지염색체(supernumerary marker chromosome, SMC)는 유래한 염색체에 따라서 임상 증상이 다양하다. 본 연구는 염색체 마이크로어레이를 이용하여 SMC의 기원을 밝히고 각 증례마다 분자세포유전학적 특성과 임상 표현형을 분석하고자 하였다. 대상 및 방법: 염색체 검사에서 SMC가 검출된 환자들 중에서 15번 염색체 유래를 제외한 4명의 환자에서 CGH 기법의 올리고 뉴클레오티드 염색체 마이크로어레이를 시행하였다. 결과: 3명의 환자에서 유래된 염색체 부위를 확인할 수 있었다. 증례1은 1q21.1-q23.3에서 16.1 Mb의 SMC를 가졌고, 증례2는 19p13.11-q13.12에서 21 Mb, 증례3은 22q11.1-q11.21과 22q11.22-q11.23의 두 구간에서 각각 2.5Mb와 2.0Mb로 재배열된 4.5 Mb의 SMC를 나타내었다. 결론: 증례1은 1q21.1 중복증후군을 포함하여 광범위한 임상표 현형을 나타내었다. 증례2는 아스퍼거 증후군과 유사한 정신행동 이상 소견은 19p12-q13.11, 청력장애와 사시는 19p13.11, 그 외 증상은 19q13.12의 유전자와 연관 가능성이 높다. 증례3은 묘안 증후군 type I 및 22q11.2 미세중복증후군과 비교했을 때 항문폐쇄는 22q11.1-q11.21, 그 외 증상들은 22q11.22-q11.23과 연관성을 시사하였다. 고해상도 염색체 마이크로어레이 분석은 SMC의 유래를 확인할 수 있고 유전형-표현형 상관성을 이해함으로써 유전상담에 도움이 된다.

자연 유산에서 드물게 관찰된 Jumping translocation 2례 (Rarely Observed Jumping Translocation in Spontaneous Abortion)

  • 이연우;이봄이;박주연;최은영;오아름;이신영;류현미;강인수;양광문;박소연
    • Journal of Genetic Medicine
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    • 제7권1호
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    • pp.82-86
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    • 2010
  • Jumping translocation (JT)은 여러 세포주에서 하나의 공여 염색체가 둘 이상의 수여 염색체와 염색체 재배열을 보이는 염색체의 구조적 이상으로 종양 세포인 림프성 혈액암에서 빈번하게 관찰되는 획득성(acquired) JT에 비해 체질성(constitutional) JT는 매우 드물게 보고되고 있다. 본 증례에서는 자연 유산된 수태산물에서 관찰된 체질성 JT 2례를 보고하고자 한다. 증례 1은 임신 7주 유산아 조직의 세포유전학적 검사에서 핵형분석 결과는 46,XY,add(18)(p11.1)[61]/45,XY,der(18;21)(q10;q10)[32]/46,XY,-18,+mar[16]/46,XY,i(18)(q10)[9]/45,XY,der(15;18)(q10;q10)[6]/46,XY,+1,dic(1;18)(p22;p11.1)[2]/45,XY,der(13;18)(q10;q10)[1]/46,XY[32]로 관찰되었다. 공여 염색체는 18번이고 수여 염색체는 1, 13, 15, 18, 21번이었다. 증례2는 임신 6주째 자연 유산된 유산아 조직으로부터 세포 유전학적 검사를 실시한 결과, 핵형은 46,XY,der(22)t(9;22)(q12;q13)[22]/46,XY,der(22)t(1;22)(q21;q13)[13]/46,XY,add(22)(q13)[5]/46,XY[23]고 관찰되었다. 공여 염색체는 22번이고 수여 염색체는1, 9번이었다. 2례모두de novo였고 acrocentric 염색체를 수반하였으며 절단점은 대부분 중심절과 중심절 주위, 말단체에 존재하였다. 본 증례는 매우 드물게 관찰되는 체질성 JT로서 임신 초기 세포 분열 단계에서 발생했고 다양한 세포주에서 나타난 비정상 핵형으로 인해 정상적인 배발달이 이루어지지 못하여 자연 유산된 것으로 생각된다.

Association of Genetic Polymorphisms at 1q22 but not 10q23 with Gastric Cancer in a Southern Chinese Population

  • Yang, Xue-Xi;Li, Fen-Xia;Zhou, Cui-Ping;Hu, Ni-Ya;Wu, Ying-Shong;Li, Ming
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권6호
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    • pp.2519-2522
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    • 2012
  • Objective: Data from a recent genome-wide association studiesy of gastric cancer (GC) and oesophageal squamous cell carcinoma in Chinese living in the Taihang Mountains of north-central China suggest that 1q22 and 10q23 are susceptibility-associated regions for GC. However, this has not been confirmed in southern Chinese populations. The aim of this study was to investigate whether these polymorphisms at 1q22 and 10q23 are associated with the risk of GC in a southern Chinese population. Methods: We selected seven top significant associated single nucleotide polymorphisms (SNPs) at 1q22 and 10q23 and conducted a population-based case-control study in a southern Chinese population. Genotypes were determined using MassARRAYTM system (Sequenome, San Diego, CA). Results: Two SNPs at 1q22, rs4072037 and rs4460629, were significantly associated with a reduced risk of GC, best fitting the dominant genetic model. Logistic regression models adjusted for age and sex showed that rs4072037 AG and GG (OR=0.64, P=0.017, compared with AA) and rs4460629 CT and TT (OR=0.54, P=0.0016, compared with TT) significantly reduced the risk of GC. However, no significant results for the five SNPs at 10q23 were obtained in this study. Conclusion: These outcomes indicate that 1q22 is associated with GC susceptibility in this southern Chinese population, while an association for the locus at 10q23 was not confirmed.

A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literature

  • Ha, Dong Jun;Park, Ji Sun;Jang, Woori;Jung, Na-young;Kim, Su Jin;Moon, Yeonsook;Lee, Jieun
    • 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.

Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22

  • Cho, Eun Hae;Park, Jae Bok;Kim, Jin Kyung
    • Clinical and Experimental Pediatrics
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    • 제57권7호
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    • pp.333-336
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    • 2014
  • Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.

Comparative genomic hybridization 기법을 이용한 인체 구강암의 유전자 변화에 대한 연구 (GENETIC ALTERATIONS OF HUMAN ORAL CANCERS USING COMPARATIVE GENOMIC HYBRIDIZATION)

  • 이명렬;심광섭;이영수;우순섭;공구
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • 제26권3호
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    • pp.245-253
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    • 2000
  • The development and progression of oral cancer is associated with an accumulation of multiple genetic alterations through the multistep processes. Comparative genomic hybridization(CGH), newly developed cytogenetic and molecular biologic technique, has been widely accepted as a useful method to allow the detection of genetic imbalance in solid tumors and the screening for chromosome sites frequently affected by gains or losses in DNA copy number. The authors examined 19 primary oral squamous cell carcinomas using CGH to identify altered chromosome regions that might contain novel oncogenes and tumor suppressor genes. Interrelationship between these genetic aberrations detected and major oncogenes and tumor suppressor genes previously recognized in carcinogenesis of oral cancers was studied. 1. Changes in DNA copy number were detected in 14 of 19 oral cancers (78.9%, mean: 5.58, range: $3{\sim}13$). High level amplification was present in 4 cases at 9p23, $12p21.1{\sim}q13.1$, 3q and $8q24{\sim}24.3$. Fourteen cases(78.9%, mean: 3.00, range: $1{\sim}8$) showed gains of DNA copy number and 12 cases(70.5%, mean: 2.58, range: $1{\sim}9$) revealed losses of DNA copy number. 2. The most common gains were detected on 3q(52.6%), 5p(21.0%), 8q(21.0%), 9p(21.0%), and 11q(21.0%). The losses of DNA copy number were frequently occurred at 9p(36.8%), 17q(36.8%), 13q(26.3%), 4p(21.0%) and 9p(21.0%). 3. The minimal common regions of gains were repeatedly observed at $3q24{\sim}26.7$, $3q27{\sim}29$, $1q22{\sim}31$, $5p12{\sim}13.3$, $8q23{\sim}24$, and 11q13.1-13.3. The minimal common regions of losses were detected at $9q11{\sim}21.3$, 17p31, $13q22{\sim}34$, and 14p16. 4. In comparison of CGH results with tumor stages, the lower stage group showed more frequent gain at 3q, 5q, 9p, and 14q, whereas gains at 1q($1q22{\sim}31$) and 11q($11q13.1{\sim}13.3$) were mainly detected in higher stage group. The loss at $13q22{\sim}34$ was exclusively detected in higher stage. The results indicate that the most frequent genetic alterations in the development of oral cancers were gains at $3q24{\sim}26.3$, $1q22{\sim}31$, and $5p12{\sim}13.3$ and losses at $9q11{\sim}21.3$, 17p31, and 13q. It is suggested that genetic alterations manifested as gains at $3q24{\sim}26.3$, $3q27{\sim}29$, $5p12{\sim}13.3$ and 5p are associated with the early progression of oral cancer. Gains at $1q22{\sim}31$ and $11q13.1{\sim}13.3$ and loss at 13q22-34 could be involved in the late progression of oral cancers.

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Construction of Deletion Map of 16q by LOH Analysis from HCC Patients and Physical Map on 16q 23.3 - 24.1 Region

  • Chung, Jiyeol;Choi, Nae Yun;Shim, Myoung Sup;Choi, Dong Wook;Kang, Hyen Sam;Kim, Chang Min;Kim, Ung Jin;Park, Sun Hwa;Kim, Hyeon;Lee, Byeong Jae
    • Genomics & Informatics
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    • 제1권2호
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    • pp.101-107
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    • 2003
  • Loss of heterozygosity (LOH) has been used to detect deleted regions of a specific chromosome in cancer cells. LOH on chromosome 16q has been reported to occur frequently in progressed hepatocellular carcinoma (HCC). Liver tissues from 37 Korean HCC patients were analyzed for LOH by using 25 polymorphic microsatellite markers distributed along 16q. Out of the 37 HCC patients studied, 21 patients (56.8%) showed LOH in various regions of 16q with at least one polymorphic marker. Puring the analysis of these 21 LOH cases, 6 patients showed interstitial LOHs in which the boundary of the LOH region was defined. With two rounds of LOH analysis, five commonly occurring interstitial LOH regions were identified; 16q21-22.1, 16q22.2 - 22.3, 16q22.3, 16q23.2 and 16q23.3 - 24.1. Among the five LOH regions the 16q23.3 - 24.1 region has been reported to be related with chromosome instability. A complete physical map, which covers the 3.2 Mb region of 16q23.3 - 24.1 (D16S402 and D16S486), was constructed to identify novel candidate tumor suppressor genes. We provide the minimally tiling path map consisting of 28 BAC clones. There was one gap between NT_10422.11 and NT_019609.9 of the human genome sequence contig (NCBI sequence build 33, April 29, 2003). This gap can be filled by sequencing the R-1425M20 clone which bridges these sequence contigs.

Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases

  • Kim, Bu Kyung;Sohn, Young Bae;Park, Sang-Jin;Yim, Shin-Young;Chung, Yoon-Sok
    • Journal of Genetic Medicine
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    • 제10권2호
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    • pp.120-123
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    • 2013
  • This report describes three cases of 22q11.2 deletion syndrome (22q11.2DS) diagnosed by array comparative genomic hybridization with final adult height and bone phenotype. The cases involved a 57-year-old woman with hypocalcemic seizure, an 18-year-old man with short stature, and a 24-year-old woman incidentally diagnosed as 22q11.2DS. The first two patients revealed short stature and low bone mineral density, and their deletion sites included the $TBX_1$. The third patient had normal stature and normal bone mineral density, and the deletion site did not include the $TBX_1$. The deletion of specific genes including the $TBX_1$ could be an important factor of skeletal development including height and bone mineral density of 22q11.2DS.

Acute Myeloid Leukemia with t(8;21)(q22;q22) (AML1/ETO) in a Patient with Marked Hypocellularity and Low Blasts Count

  • ;조희순
    • Journal of Yeungnam Medical Science
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    • 제24권1호
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    • pp.85-90
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    • 2007
  • 세계보건기구의 분류에 따르면 8번 염색체와 21번 염색체의 전위인 t(8;21)(q22;q22)를 가진 경우는 말초혈액이나 골수에 모세포가 20% 미만이더라도 급성골수성백혈병으로 분류하여야 하며, 이는 흔하지 않은 소견이다. 뿐만 아니라 이런 아형의 백혈병에서 골수의 저세포 충실도는 매두 드물다. 저자들은 골수세포충실도가 5% 미만으로 심하게 감소되어 있고, 골수의 모세포도 20% 미만인 환자에서 t(8;21)을 관찰하여 급성골수성백혈병으로 진단한 1례를 보고하는 바이다. 항암치료에 잘 반응하고 동종골수이식의 생착이 잘 이루어져, t(8;21)을 가진 일반적인 고세포충실성 급성골수성백혈병과 유사하게 좋은 예후를 가지는 것으로 생각된다.

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