Abstract:
OBJECTIVE:We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. MATERIALS AND METHODS:A 22-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result. Prenatal ultrasound revealed a hypoplastic left heart and short limbs. Amniocentesis revealed a karyotype of 46,Y,der(X) t(X;?)(p22.31;?). The pregnancy was subsequently terminated, and a malformed fetus was delivered with short stature and facial dysmorphism. Repeat amniocentesis was performed before termination of the pregnancy. Array comparative genomic hybridization was performed on uncultured amniocytes and maternal blood. Conventional cytogenetic analysis was performed on cultured amniocytes, cord blood, and blood from both parents. Fluorescence in situ hybridization was performed on cultured amniocytes. RESULTS:The maternal karyotype was 46,X,inv(X)(p22.3q26.3). The fetal karyotype was 46,Y, rec(X)dup(Xq)inv(X)(p22.3q26.3) or 46,Y, rec(X)(qter→q26.3::p22.3→qter). Array comparative genomic hybridization on uncultured amniocytes revealed a 4.56-Mb deletion of Xp22.33-p22.32 encompassing SHOX, CSF2RA, and ARSE, and a 19.22-Mb duplication of Xq26.3-q28 encompassing SOX3, FMR1, MECP2, RAB39B, and CLIC2 in the fetus. The mother did not have X chromosome imbalance. CONCLUSION:Detection of X chromosome aberration in a male fetus should give suspicion of a recombinant X chromosome derived from maternal X chromosome pericentric inversion.
journal_name
Taiwan J Obstet Gynecoljournal_title
Taiwanese journal of obstetrics & gynecologyauthors
Chen CP,Chen CY,Chern SR,Wu PS,Chen YN,Chen SW,Lee CC,Town DD,Lee MS,Yang CW,Wang Wdoi
10.1016/j.tjog.2016.05.009subject
Has Abstractpub_date
2016-10-01 00:00:00pages
705-711issue
5eissn
1028-4559issn
1875-6263pii
S1028-4559(16)30134-6journal_volume
55pub_type
杂志文章abstract:OBJECTIVE:Persistent high-risk HPV (HR HPV) infection leads to the development of squamous intraepithelial lesions, which in turn may progress to cervical cancer. Telomere elongation or shortening may indicate a carcinogenesis process. In the present study, we analyzed telomere length from blood and cervical smears of ...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2019.11.007
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:This paper aims to present molecular cytogenetic and epigenetic evaluation of placental mesenchymal dysplasia (PMD). MATERIALS AND METHODS:A 33-year-old woman was referred to the hospital at 18 weeks of gestation because of a multicystic mass in the placenta. Ultrasound showed a normal amount of amniotic flu...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2013.10.036
更新日期:2014-03-01 00:00:00
abstract:OBJECTIVE:Patients with Long QT syndrome (LQTS) P may present with torsades de pointes, ventricular tachycardia (VT), or ventricular fibrillation (VF) and are at risk of sudden cardiac death. MATERIALS AND METHODS:A 38 y/o female patient with uterus myoma developed VF during laparoscopic assisted vaginal hysterectomy ...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2019.05.031
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:In nonimmune pregnant woman, the primary infection with parvovirus B19 may lead to transplacental transmission to the fetus with variable outcomes, including congenital anemia, hydrops fetalis, fetal death or spontaneous resolution. CASE REPORT:The first case was of a 28-year-old woman, gravida 2, para 1, wh...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/s1028-4559(08)60014-5
更新日期:2007-12-01 00:00:00
abstract:OBJECTIVE:To present molecular cytogenetic characterization of a de novo duplication of Xq22.1→q24 in a mentally retarded woman with short stature and premature ovarian failure. MATERIALS AND METHODS:A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2011.01.018
更新日期:2011-09-01 00:00:00
abstract:OBJECTIVE:We present prenatal diagnosis of mosaicism for trisomy 11 in a single colony at amniocentesis with a favorable outcome. CASE REPORT:A 34-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a result of 47,XY,+11[1]/46,XY[9]. In 10 colonies o...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type:
doi:10.1016/j.tjog.2020.01.027
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:To identify characteristics and pregnancy outcomes among pregnant illicit drug users living in an urban area, and to describe trends in drug use over an 8-year period. MATERIALS AND METHODS:Data on pregnant women living in the Bangkok Metropolitan Region who delivered at our institution during 2008-2015 were...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2017.12.014
更新日期:2018-02-01 00:00:00
abstract::Streptococcus (S.) agalactiae colonizes in the female genitourinary and lower gastrointestinal tracts and is responsible for a wide range of infections in newborns, pregnant women and non-pregnant adults. Therefore, antibiotic prophylaxis and infection treatment against S. agalactiae is important. The aim of this stud...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章,评审
doi:10.1016/j.tjog.2020.07.002
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:We describe our experience with serial uterine artery embolization (UAE) combined with standard weekly methotrexate and a eight-day methotrexate/folinic acid (MTX/FA) treatment regimen in the management of placenta accreta spectrum (PAS) disorder at 7 weeks of gestation. CASE REPORT:A 38-year-old woman, grav...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type:
doi:10.1016/j.tjog.2020.09.027
更新日期:2020-11-01 00:00:00
abstract::Systemic administration of cytotoxic drugs is the primary treatment strategy for patients with advanced cancer. The effect of cytotoxic drugs is to disrupt the DNA of the cells, rendering them unable to replicate and finally killing them; therefore, the fundamental role of a wide range of treatment regimens is typical...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章,评审
doi:10.1016/j.tjog.2012.04.002
更新日期:2012-06-01 00:00:00
abstract:OBJECTIVE:Although laparoscopic surgery is widely utilized in the treatment of endometrial cancer, its efficacy in staging the cancer is not well established. The aim of this study was to compare staging endometrial cancer with laparoscopic and conventional open methods. MATERIALS AND METHODS:From January 2002 to June...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2016.02.007
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVE:We describe a case of gestational choriocarcinoma metastasized to the kidney and lung, which presented initially as refractory hematuria after a term pregnancy 5 years earlier. CASE REPORT:A 35-year-old woman, G2P1, with a previous history of full-term pregnancy in 2009, presented to the emergency department...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2015.08.028
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:This study was aimed to identify the physical and mental state of women after delivery, to investigate the factors that influence those, and to examine the effects of postpartum care performance, which is traditionally believed to be appropriate care in Korea, on women's physical and mental status. MATERIALS...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2014.04.030
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to describe our experience with the diagnosis and management of acquired uterine vascular abnormalities associated with persistent human chorionic gonadotropin (hCG). Through this case series, we sought to establish our protocol for the treatment and follow-up of uterine vascular les...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2014.06.008
更新日期:2015-12-01 00:00:00
abstract:OBJECTIVE:Many women quit smoking during pregnancy resume in postpartum period and difficult to prevent. No studies had focused on their psychosocial response in Taiwan. We analyzed data from a trial of Taiwan Smoker's Helpline (TSH) to determine factors associated with smoking relapse after delivery. MATERIALS AND ME...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.tjog.2019.07.015
更新日期:2019-09-01 00:00:00
abstract:OBJECTIVE:Human-embryonic-stem-cell (hESC) lines derived from chromosomally or genetically abnormal embryos obtained following preimplantation genetic diagnosis are valuable in investigating genetic disorders. MATERIALS AND METHODS:In this study, a new hESC line, Center of Clinical Reproductive Medicine 8 (CCRM8) was ...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2015.08.003
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:We present a rare case of a very rapidly growing stage IV ovarian endometrioid adenocarcinoma involving the uterine cervix and vagina without lymph node involvement. CASE REPORT:A 43-year-old woman visited the hospital with complaints of lower abdominal discomfort and vaginal bleeding over the previous 3 mon...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2011.10.023
更新日期:2011-12-01 00:00:00
abstract::Abnormal umbilical artery flow with absent or reversed end-diastolic velocity (AREDV) during pregnancy is a strong indication of placental insufficiency. When AREDV occurs prenatally, a close follow-up or expeditious delivery should be contemplated. AREDV in the umbilical artery is associated with intraventricular hem...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章,评审
doi:10.1016/S1028-4559(09)60294-1
更新日期:2009-09-01 00:00:00
abstract::Placenta previa poses a high risk for massive hemorrhage, from the antenatal period until after Cesarean section. This condition increases the risk of maternal and neonatal mortality and morbidity. In cases of placenta previa, the prenatal prediction of sudden bleeding during pregnancy and blood loss during Cesarean s...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章,评审
doi:10.1016/j.tjog.2012.01.002
更新日期:2012-03-01 00:00:00
abstract:OBJECTIVE:To evaluate the rates of infection of asymptomatic fetuses and mothers through fetal cord blood and maternal blood examination results. MATERIALS AND METHODS:Quantitative PCR (Q-PCR) was used to detect pathogens in maternal peripheral blood and fetal cord blood after delivery of term pregnancy at Buddhist Tz...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/S1028-4559(09)60207-2
更新日期:2006-06-01 00:00:00
abstract:OBJECTIVE:To understand the mechanisms of postpartum uterine involution, we investigated the uterine myometrial changes during pregnancy and the postpartum period. MATERIALS AND METHODS:Nine groups of uterine myometrial samples from mice (n = 4) were collected on gestational Day 0 (nonpregnant), Day 1, Day 2, Day 7, D...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2013.01.030
更新日期:2014-09-01 00:00:00
abstract:OBJECTIVE:The purpose of this methodology study is to examine the relative validity of four dietary assessment methods during pregnancy and to understand the pros and cons of each method. MATERIALS AND METHODS:We recruited 181 healthy pregnant women with less than 20 weeks of gestation and collected information throug...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2014.04.007
更新日期:2014-06-01 00:00:00
abstract:OBJECTIVE:To study the possible non-genomic effect of selective estrogen receptor modulators on human dermal fibroblasts (HDF). MATERIALS AND METHODS:WS1 cells were used to test the effect of raloxifene. The mRNA expressions of estrogen receptor (ER) α and β and G protein-coupled ER 1(GRP30) were examined by reverse t...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2011.10.013
更新日期:2011-12-01 00:00:00
abstract:OBJECTIVE:The purpose of this study is to explore the effect of human papillomavirus (HPV) on the sexual lives of women and their partners. MATERIALS AND METHODS:Twenty oncogenic or high-risk HPV infected cases were collected via purposive sampling. At a tertiary medical center in Taipei, 20 women underwent a 2-hour i...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/S1028-4559(10)60090-3
更新日期:2010-12-01 00:00:00
abstract:OBJECTIVE:To analyze the benefits of external cephalic version (ECV) with epidural analgesia at term and labor induction just after the procedure. MATERIALS AND METHODS:This is a retrospective observational study with patients who did not want trying a breech vaginal delivery and decided trying an ECV with epidural an...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2017.04.018
更新日期:2017-06-01 00:00:00
abstract:OBJECTIVE:Difficulties often encountered during intubation in extremely low birth-weight (ELBW) neonates requiring resuscitation at birth because of the smaller airway and the pressure from the limited number of attempts before hemodynamic instability occurs. CASE REPORT:We evaluated two pregnant women at 26 weeks of ...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2017.07.001
更新日期:2017-08-01 00:00:00
abstract:OBJECTIVE:To evaluate the risk of encountering unexpected uterine smooth muscle tumors of uncertain malignant potential (STUMPs) or sarcomas during surgical treatment of mesenchymal tumors of the uterus using morcellation. MATERIAL AND METHODS:Data were collected retrospectively from subjects who were pathologically d...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2020.01.017
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin (SEA-HPFH) and β -thalassemia that allowed prenatal diagnosis to b...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2018.04.019
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:To describe the value of hysteroscopic fetoscopy (virtuopsy) at the time of uterine suction in a case of early diagnosis of congenital anomalies in parents refusing conventional full autopsy examination. CASE REPORT:First trimester ultrasound diagnosis of proboscis, median cleft lip and palate and limb defor...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/j.tjog.2015.08.016
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to identify personal, familial or social predictors of depression in infertile women seeking treatment. MATERIALS AND METHODS:This cross-sectional study included 193 infertile women who had been referred to an infertility center, where they were either undergoing treatment or invest...
journal_title:Taiwanese journal of obstetrics & gynecology
pub_type: 杂志文章
doi:10.1016/S1028-4559(08)60074-1
更新日期:2008-06-01 00:00:00