Familial 15p tetrasomy due to supernumerary marker 15 chromosome associated with Robertsonian translocation between chromosomes 13 and 14
スポンサーリンク
概要
- 論文の詳細を見る
We report a cytogenetic and molecular cytogenetic study of a novel familial case of 15p tetrasomy due to an extra supernumerary marker chromosome (SMC) (15), which is associated with der (13 ; 14) (q10 ; q10). The proband is a 36-year-old married male with severe oligozoospermia and normal intelligence. He and his pregnant wife attended our department to receive prenatal diagnosis based on the indications of intra-cytoplasmic sperm injection (ICSI) pregnancy and advanced maternal age (39 years). The chromosome analysis of cultured amniocytes showed a Robertsonian translocation between chromosomes 13 and 14 : 45, XX, der (13 ; 14) (q10 ; q10). A cytogenetic examination of the couple revealed that the fetal translocated chromosome is paternally derived, and an extra small bisatellited psudodicentric marker chromosome was detected as a new finding in the husband (proband). Karyotyping of the proband's parents showed that his mother, who is of normal intelligence, carried the same translocation and SMC (15). Although fluorescence in situ hybridization (FISH) with DYZ3, D13/21Z1, D14/22Z1, and SNRPN probes showed no signal on the marker, two strong D15Z1 hybridization signals were found on either side of the centromeric heterochromatin. Thus, the marker chromosome was identified as familial inv dup (15) (pter→q11∷q11→pter) without loci such as the Prader-Willi syndrome (PWS) /Angelman syndrome (AS) critical regions, and we determined that there was a low risk of it affecting the baby's phenotype. Following these results, the pregnancy was continued, and a baby girl was born and developed without any clinically abnormal findings during 3 years after delivery. The coexistence of the two different chrmosome abnormalities in this family might be merely fortuitous.
- 財団法人染色体学会の論文
著者
-
HOSHI Nobuhiko
Department of Bioresource Science, Graduate School of Agricultural Science, Kobe University
-
藤本 征一郎
北大産婦人科
-
佐川 正
北海道大
-
Fujimoto Seiichiro
Tenshi Hospital
-
佐川 正
北海道大学 医学部産婦人科
-
山田 秀人
北海道大学産婦人科
-
根岸 広明
北海道大学医学部産婦人科学講座
-
YAMADA Takahiro
Department of Human Genetics, Nagasaki University School of Medicine
-
YAMADA Hideto
Department of Obstetrics and Gynecology, Hokkaido University School of Medicine
-
OKUYAMA Kazuhiko
Department of Obstetrics and Gynecology, Hokkaido University School of Medicine
-
FUJIMOTO Seiichiro
Department of Obstetrics and Gynecology, Hokkaido University School of Medicine
-
Yamada Hideto
Department Of Obstetrics And Gynecology Hokkaido University Graduate School Of Medicine
-
Yamada Takahiro
Department Of Obstetrics And Gynecology Hokkaido University Graduate School Of Medicine
-
藤本 征一郎
北大医学部産婦人科
-
Fujimoto Seiichiro
Sapporo Maternity Women's Hospital
-
Fujimoto Seiichiro
Department Of Obstetrics And Gynecology Hokkaido University Graduate School Of Medicine
-
Okamoto Kazuhira
Department Of Obstetrics And Gynecology Hokkaido University Graduate School Of Medicine
-
Hoshi Nobuhiko
神戸大学 自然科学研究科資源生命科学
-
Hoshi Nobuhiko
Department Of Obstetrics And Gynecology Hokkaido University School Of Medicine:(present Address) Lab
-
Hoshi Nobuhiko
Department Of Veterinary Anatomy Faculty Of Veterinary Medicine Hokkaido University
-
Sugawara Teruo
Department of Obstetrics and Gynecology, Hokkaido University School of Medicine
-
Sagawa Tadashi
Department of Obstetrics and Gynecology, Hokkaido University School of Medicine
-
Sagawa Tadashi
Department Of Obstetrics And Gynecology Hokkaido University School Of Medicine
-
Okuyama Kazuhiko
Department Of Obstetrics And Gynecology Hokkaido University School Of Medicine
-
Okuyama Kazuhiko
Department Of Obstetrics And Gynecology Hokkaido University Graduate School Of Medicine
-
Yamada Takahiro
Department Of Obstetrics And Gynecology Hokkaido University
-
Yamada Takahiro
Department Of Applied Chemistry School Of Engineering Tohoku University
-
Okuyama Kazuhiko
Department Of Obstetrics And Gynecology Sapporo City General Hospital
-
Yamada Takashi
Department Of Obstetrics And Gynecology Hokkaido University Graduate School Of Medicine
-
Fujimoto Seiichiro
Deparment Of Obstetrics And Gynecology Hokkdaido University School Of Medicine
-
Yamada Hideto
Obstetrics And Gynecology Hokkaido University Graduate School Of Medicine
-
Sagawa Tadashi
Department Of Molecular Biochemistry Graduate School Of Medicine Hokkaido University
-
Hoshi Nobuhiko
Department Of Animal Science Graduate School Of Agricultural Science Kobe University
-
Yamada Takashi
Department Of Animal Science Graduate School Of Agricultural Science Kobe University
関連論文
- P3-26 閉経後骨粗鬆症治療における薬剤変更(Group101 骨粗鬆症1,一般演題,第62回日本産科婦人科学会学術講演会)
- 解剖学:ラットパイエル板の濾胞被蓋上皮におけるアポトーシスの遅い進行に関する免疫組織化学的研究
- 3.双胎妊娠の管理 (C. ハイリスク妊娠の管理)
- 393 早産期前期破水(PPROM)発症の予知に関する前方視的検討
- 253 産婦人科乳房外来における二次検診としての穿刺吸引細胞診の検討
- 21 抗PCNA抗体を用いた正常子宮内膜および子宮体癌の細胞増殖能の検討
- 52 高Ca血症を呈した異所性PTH (Parathyroid Hormone)を産生する子宮内膜癌の一症例
- 395 子宮体癌の予後因子についての検討
- 392 婦人科悪性腫瘍における旁大動脈節転移の検討
- 281 子宮筋腫に関する細胞遺伝学的研究
- P-325 本邦における家族性卵巣癌家系で多く認められたBRCA1遺伝子変異
- P-68 家族性上皮性卵巣癌患者におけるエストロゲンレセプター遺伝子の解析
- P-67 家族性上皮性卵巣癌症例のCGH法を用いた遺伝子変化の解析
- 280 Genome-wide linkage analysisによる家族性上皮性卵巣癌に関連する新規原因遺伝子領域の同定
- P-378 家族性卵巣癌におけるLOH解析による癌抑制遺伝子の検索
- 103 家族性上皮性卵巣癌に関連する原因遺伝子領域の同定
- 101 BRCA1蛋白の局在解析によるBRCA1遺伝子の突然変異検出に関する検討
- 372 旁大動脈リンパ節転移と子宮体癌の予後との関連について
- 371 子宮体癌の新しいFIGO進行期分類, Nuclear grade, 脈管侵襲による予後の検討
- P2-488 ホルモン補充療法がマンモグラフィー所見に与える影響についての検討(Group 178 思春期・更年期・老年期IV,一般演題,講演要旨,第58回日本産科婦人科学会学術講演会)
- 卵巣の硬化性間質性腫瘍・莢膜細胞腫・線維腫の免疫組織化学的検討
- 卵巣の硬化性間質性腫瘍の免疫組織学的検討 : そのホルモン産生能について
- 妊婦と漢方(漢方療法シリーズ)
- 89 家族性卵巣癌家系に発生した3重複癌(卵巣癌, 膀胱癌, 尿管癌)の1症例
- 4) 高年妊娠と分娩 (2.レクチャーシリーズ)
- 広汎子宮全摘術後の膀胱機能障害に対するurodynamics study : Four channel pressure flow studyによる評価
- 13. 子宮頸部横絞筋腫の 1 例(第 11 回日本小児外科学会北海道地方会)
- STRと関連疾患での遺伝性不安定性
- Lectin Histochemical Detection of Special Sugars on the Mucosal Surfaces of the Rat Alimentary Tract
- Vaginal and Cervical pH in Bacterial Vaginosis and Cervicitis during Pregnancy
- 妊娠高血圧症とアンジオテンシンII受容体遺伝子多型
- 24 ネコ母性行動と大脳辺縁系の態度(2)(第5群)(第30回日本女性心身医学術集会)
- 2.胎児循環動態の評価 (C. ハイリスク妊娠の管理)
- B-5-4 心身医学的アプローチによる病型分類と管理(心身医学的治療)
- 臨床医学の進歩ABC 生殖細胞シリ-ズ 18.臨床的な立場からみた卵巣の問題点
- 4. 陣痛の調節(A. 臨床レクチャー)
- ビデオ映像で見る鏡下手術の進歩 : 切らずにどこまで治せるか (平成7年度 北海道医学会大会シンポジウム)
- 外傷を機に月経困難症が増悪し漢方治療が奏功した一症例
- 下腹部痛・骨盤痛の原因・処置 (痛み)
- 10.出生前に診断した先天性腸閉鎖症の1例(第31回日本小児外科学会北海道地方会)
- 妊娠と栄養 (病気と栄養)
- 妊娠後期ヒツジにおけるβ_2-stimulant(Ritodrine hydrochloride)の経胎盤移行について
- Cefotaximeの妊娠後期における経胎盤移行について (Cefotaxime-2-)
- 17. 先天性臍尿瘻の 1 治験例(第 14 回日本小児外科学会北海道地方会)
- 14. Xyphoomphalopagus の手術経験(第 13 回日本小児外科学会北海道地方会)
- 197.未分化扁平上皮癌、内膜型腺癌及びsignet-ring cell type混成癌の像を有する子宮, 示説, 第26回日本臨床細胞学会秋期大会学術講演会)
- 113 卵管周囲癒着ならびに卵管通過性のHysterosalpingographyによる診断とLaparoscopyによる確認
- IS-125 KL-6 and SP-A Levels in Amniotic Fluid as Markers of Fetal Lung Maturation
- 4G/5G Variant of Plasminogen Activator Inhibitor-1 Gene and Severe Pregnancy-Induced Hypertension : Subgroup Analyses of Variants of Angiotensinogen and Endothelial Nitric Oxide Synthase
- A1166C variant of angiotensin II type 1 receptor gene is associated with severe hypertension in pregnancy independently of T235 variant of angiotensinogen gene
- PID症例における C. trachomatis 抗体の検討 : 「セロイパライザクラミジアIgA、IgG、IgM」を用いて
- 妊娠高血圧症の発症におけるアンジオテンシノーゲン遺伝子多型の意義
- 妊娠高血圧症とアンジオテンシノーゲン遺伝子多型 : 予知医学の新しい展開(妊娠中毒症の発症メカニズムとその予知)
- PCODの内分泌環境と楔状切除術後の排卵成立機序について : "Spring action" theoryの提唱
- 9. メコニウム腹膜炎をともなった先天性腸閉鎖症の 1 治験例(第 3 回 日本小児外科学会北海道地方会)
- 131. カッシング症候群に妊娠を合併せる1症例について
- 27. HCGによる家兎抗HCG抗体産生の検討
- Risk of Recurrence of Fetal Chromosomal Aberrations : Analysis of Trisomy 21, Trisomy 18, Trisomy 13, and 45, X in 1,076 Japanese Mothers
- BLOOD SUPPLY AND MICROVASCULATURE OF THE LYMPH NODES IN PIGS
- A SCANNING ELECTRON MICROSCOPIC STUDY ON THE ARCHITECTURE OF LYMPH VESSELS AND INTRANODAL LYMPH PATHWAYS OF LYMPH NODES IN PIGS
- Histoplanimetrical Study on the Relationship between Cellular Kinetics of Epithelial Cells and Proliferation of Indigenous Bacteria in the Rat Colon
- Histoplanimetrical Study on the Spatial Relationship of Distribution of Indigenous Bacteria with Mucosal Lymphatic Follicles in Alimentary Tract of Rat
- Histoplanimetrical Study on the Relationship between the Cell Kinetics of Villous Columnar Epithelial Cells and the Proliferation of Indigenous Bacteria in Rat Small Intestine
- An Immunohistochemical Detection of Actin and Myosin in the Indigenous Bacteria-Adhering Sites of Microvillous Columnar Epithelial Cells in Peyer's Patches and Intestinal Villi in the Rat Jejunoileum(Anatomy)
- 札幌市における妊婦甲状腺機能スクリーニング : 過去11年間の実施成績
- IS-66 An infertile woman with steroid cell tumor presenting hyperandrogenism : a case report
- MORPHOLOGICAL STUDIES ON PIG LYMPH NODES
- Familial 15p tetrasomy due to supernumerary marker 15 chromosome associated with Robertsonian translocation between chromosomes 13 and 14
- Morphological Aspects of Ectopia Cordis : Four Case Reports and a Review of the Literature
- Cytogenetic study on uterine leiomyoma(Abstracts of the 49th Annual Meeting of the Society of Chromosome Research)
- Molecular genetic study on sex determination, differentiation and sexual differentiation anomaly(Abstracts of the 49th Annual Meeting of the Society of Chromosome Research)
- Molecular and cytogenetic prenatal identification of supernumerary marker chromosomes (SMCs)(Abstracts of the 49th Annual Meeting of the Society of Chromosome Research)
- Chromosomal Analysis in 894 Induced Abortuses from Women of Advanced Maternal Age in Relation to Gestational Weeks and Fetal Sex Ratio
- IS-48 Roles of nitric oxide in regulation of rat ovarian blood flow during the preovulatory period
- IS-54 Production of Macrophage Migration Inhibitory Factor(MIF)from Granulosa Cells at Ovulatory Phase
- IS-124 Persistent Detection of Alfa-fetoprotein in the Vagina without Overt Preterm Premature Rupture of the Membranes : Clinical and Chemical Characterizations
- IS-92 Analyses of Factors Contributing Vulnerability to Antenatal Periventricular Leukomalacia Induced by Hemorrhagic Hypotension in Chronically Instrumented Fetal Sheep
- Silent Premature Rupture of Membranes, Detected and Monitored Serially by an AFP Kit
- Recent advance in diagnosis of preterm premature rupture of the ,membranes
- Comparison of an Improved AFP Kit with the Intra-Amniotic PSP Dye-Injection Method in Equivocal Cases of Preterm Premature Rupture of the Fetal Membranes
- Screening for Bacterial Vaginosis and Cervicitis Aimed at Preventing Premature Delivery
- Cytokines Concentrations in the Cervical Mucus of Pregnant Women
- 無排卵症の手術療法 (排卵誘発)
- Cytoreductive surgery combined with organ resection for advanced ovarian carcinoma
- Thromboprophylaxis with low molecular weight heparin in thrombophilia-complicated pregnancy
- Management of Pregnancy with Congenital Antithrombin III Deficiency : Two Case Reports and a Review of the Literature
- IS-102 Lens Culinaris Agglutinin Reactive AFP in Prenatal Screening of Down Syndrome
- IS-25 Dominant Negative Mutation of p53 Tumor Suppressor Gene the in Pathogenesis of Endometrial Carcinoma
- IS-24 Combined Conventional and Immunocytochemical Cytology for Peritoneal Washings in Endometrial Carcinoma
- IS-9 Preoperative Serum SCC, CEA, CA125, and CA19-9 Levels and Surgicopathological Extension of Cervical Carcinoma
- Clinical application of serum alpha-fetoprotein microheterogeneity
- Assessment of congenital nasal stenosis by shaded surface display reconstruction images
- Prenatal trisomy 21 screening using the Lens culinaris agglutinin-reactive alpha-fetoprotein ratio
- Specific ultrasound findings associated with fetal chromosome abnormalities
- Clinical Usefulness of the Dye-Injection Method for Diagnosing Premature Rupture of the Membranes in Equivocal Cases
- Two Cases of Monozygotic Twins, in Each of Which One Fetus Was Prenatally Diagnosed as Having a Heart Anomaly
- Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome
- Global gene profiling and comprehensive bioinformatics analysis of a 46,XY female with pericentric inversion of the Y chromosome
- Microarray and Gene Ontology analyses reveal downregulation of DNA repair and apoptotic pathways in diethylstilbestrol-exposed testicular Leydig cells
- Persorption of IgG-Fc-Coated Particulates from Intestinal Lumen into Portal Blood via Villous Columnar Epithelial Cells in Rat Small Intestine