• Title, Summary, Keyword: 1q22

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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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    • v.7 no.1
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    • pp.78-81
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    • 2010
  • Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).

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

  • Bae, Mi-Hyun;Yoo, Han-Wook;Lee, Jin-Ok;Hong, Maria;Seo, Eul-Ju
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.119-124
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    • 2011
  • Purpose: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs using chromosomal microarray and to analyze molecular cytogenetic characterizations and clinical phenotypes in patients with SMCs. Materials and Methods: Among patients with SMCs detected in routine chromosomal analysis, SMCs originating from chromosome 15 were excluded from the present study. CGH-based oligonucleotide chromosomal microarray was performed in 4 patients. Results: The chromosomal origins of SMCs were identified in 3 patients. Case 1 had a SMC of 16.1 Mb in 1q21.1-q23.3. Case 2 showed 21 Mb gain in 19p13.11-q13.12. Case 3 had a 4.5 Mb-sized SMC rearranged from 2 regions of 2.5 Mb in 22q11.1-q11.21 and 2.0 Mb in 22q11.22-q11.23. Conclusion: Case 1 presented a wide range of phenotypic abnormalities including the phenotype of 1q21.1 duplication syndrome. In case 2, Asperger-like symptoms are apparently related to 19p12-q13.11, hearing problems and strabismus to 19p13.11 and other features to 19q13.12. Compared with cat-eye syndrome type I and 22q11.2 microduplication syndrome, anal atresia in case 3 is likely related to 22q11.1-q11.21 while other features are related to 22q11.22-q11.23. Analyzing SMCs using high-resolution chromosomal microarray can help identify specific gene contents and to offer proper genetic counseling by determining genotype-phenotype correlations.

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

  • Lee, Yeon-Woo;Lee, Bom-Yi;Park, Ju-Yeon;Choi, Eun-Young;Oh, Ah-Rum;Lee, Shin-Young;Ryu, Hyun-Mee;Kang, Inn-Soo;Yang, Kwang-Moon;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.7 no.1
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    • pp.82-86
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    • 2010
  • Jumping translocations (JT) are chromosomal rearrangements involving one donor chromosome and several recipient chromosomes. While JTs are frequently observed as acquired chromosomal abnormalities in hematologic malignancies, constitutional JTs are only rarely reported. We report two cases of constitutional JT in chorionic villi derived from the products of conception. The karyotype of the first case was 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]. The donor was a chromosome 18. The recipient chromosomes were chromosomes 1, 13, 15, 18 and 21. In the second case, the karyotype was 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]. The donor was a chromosome 22 and recipients were chromosomes 1 and 9. Both cases were de novo. The breakpoints of chromosomes were mostly in centromeric regions, pericentromeric regions, or telomeric regions. Normal cell lines were observed in both cases. This report supports the prior findings that the unstable nature of JT, resulting in chromosomal imbalance, most likely contributed to these early miscarriages.

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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    • v.13 no.6
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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.

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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    • v.10 no.2
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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.

LOCAL AND GLOBAL EXISTENCE AND BLOW-UP OF SOLUTIONS TO A POLYTROPIC FILTRATION SYSTEM WITH NONLINEAR MEMORY AND NONLINEAR BOUNDARY CONDITIONS

  • Wang, Jian;Su, Meng-Long;Fang, Zhong-Bo
    • Bulletin of the Korean Mathematical Society
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    • v.50 no.1
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    • pp.37-56
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    • 2013
  • This paper deals with the behavior of positive solutions to the following nonlocal polytropic filtration system $$\{u_t=(\mid(u^{m_1})_x{\mid}^{{p_1}^{-1}}(u^{m_1})_x)_x+u^{l_{11}}{{\int_0}^a}v^{l_{12}}({\xi},t)d{\xi},\;(x,t)\;in\;[0,a]{\times}(0,T),\\{v_t=(\mid(v^{m_2})_x{\mid}^{{p_2}^{-1}}(v^{m_2})_x)_x+v^{l_{22}}{{\int_0}^a}u^{l_{21}}({\xi},t)d{\xi},\;(x,t)\;in\;[0,a]{\times}(0,T)}$$ with nonlinear boundary conditions $u_x{\mid}{_{x=0}}=0$, $u_x{\mid}{_{x=a}}=u^{q_{11}}u^{q_{12}}{\mid}{_{x=a}}$, $v_x{\mid}{_{x=0}}=0$, $v_x|{_{x=a}}=u^{q21}v^{q22}|{_{x=a}}$ and the initial data ($u_0$, $v_0$), where $m_1$, $m_2{\geq}1$, $p_1$, $p_2$ > 1, $l_{11}$, $l_{12}$, $l_{21}$, $l_{22}$, $q_{11}$, $q_{12}$, $q_{21}$, $q_{22}$ > 0. Under appropriate hypotheses, the authors establish local theory of the solutions by a regularization method and prove that the solution either exists globally or blows up in finite time by using a comparison principle.

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

  • Cho, Eun Hae;Park, Jae Bok;Kim, Jin Kyung
    • Korean Journal of Pediatrics
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    • v.57 no.7
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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.

Prenatal Diagnosis of the 22q11.2 Duplication Syndrome

  • Lee, Moon-Hee;Park, So-Yeon;Lee, Bom-Yi;Choi, Eun-Young;Kim, Jin-Woo;Park, Ju-Yeon;Lee, Yeon-Woo;Oh, Ah-Rum;Lee, Shin-Young;Yang, Jae-Hyug;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.6 no.2
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    • pp.175-178
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    • 2009
  • The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been increased by molecular techniques, such as array CGH. In this study, we report a familial case of 22q11.2 duplication detected prenatally. Her first pregnancy was terminated because of 22q11.2 duplication detected incidentally by BAC array CGH. The case was referred due to second pregnancy with same 22q11.2 duplication. We perfomed repeat amniocentesis for karyotype and FISH analysis. Karyotype analysis from amniocytes and parental lymphocytes were normal, while FISH analysis of interphase cells presented a duplication of 22q11.2 in the fetus and phenotypically normal mother. The fetal ultrasound showed grossly normal finding. After genetic counseling about variable phenotype with intrafamilial variability with 50% recurrence rate, the couple decided to continue the pregnancy. The newborn had no apparent congenital abnormalities until 2 weeks after birth. We recommend that family members of patients with a 22q11.2 duplication be tested by the interphase FISH analysis. Also, we point out the importance of genetic counseling and an evaluation of the clinical relevance of diagnostic test results.

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

  • Lee, Myeong-Reoyl;Shim, Kwang-Sup;Lee, Young-Soo;Woo, Soon-Seop;Kong, Gu
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.26 no.3
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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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    • v.1 no.2
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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.