https://scholars.lib.ntu.edu.tw/handle/123456789/548181
標題: | Trisomy 13 mosaicism: Study of serial cytogenetic changes in a case from early pregnancy to infancy | 作者: | Chen M. Yeh G.-P. JIN-CHUNG SHIH Wang B.-T. |
公開日期: | 2004 | 卷: | 24 | 期: | 2 | 起(迄)頁: | 137-143 | 來源出版物: | Prenatal Diagnosis | 摘要: | We report a patient whose chorionic villus sampling showed a nonmosaic trisomy 13 [46,XX,der(13;13) (q10;q10)]. Subsequent amniocentesis and cordocentesis showed varying percentages of abnormal cells (77 and 78% in two amniocentesis; 14% in cordocentesis) and mosaic trisomy 13 was impressed. Prenatal fetal ultrasound scanning revealed only mild structural abnormalities (echogenic cardiac foci, transient lemon head, transient skin oedema). The mother chose to continue the pregnancy. Karyotyping of the cord blood, peripheral blood, umbilical cord, urine, and chorion were performed postpartum. The process of correction appeared to exist in the placenta (indirect evidence from coexistence of trisomy 13 [46,XX,der(13;13)(q10,q10)], euploidy [46,XX], aneuploidy [46,XX,-13,+mar], and monosomy 13 [45,XX,-13] in the chorion at birth). The baby had survived beyond eight months of age at the time of submission. Few structural abnormalities except low-set ears, absence of the 12th rib, and cardiomegaly with ventricular septal defect, were noted postnatally. The growth reached 95th percentile at the age of one month. Development milestones were not delayed at serial evaluations. Her ventricular septal defect was corrected surgically at the age of six months. Karyotypes of her skin fibroblasts, blood lymphocytes, and cardiac tissue were all normal [46,XX] at the time of surgery. Difficulties of the genetic counseling are also discussed. ? 2004 John Wiley & Sons, Ltd. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-1542321066&doi=10.1002%2fpd.814&partnerID=40&md5=331365a92e5e5f07446d0465a25808a0 https://scholars.lib.ntu.edu.tw/handle/123456789/548181 |
ISSN: | 0197-3851 | DOI: | 10.1002/pd.814 | SDG/關鍵字: | adult; amniocentesis; aneuploidy; article; cardiomegaly; case report; cordocentesis; cytogenetics; female; fetus; fetus echography; first trimester pregnancy; genetic counseling; heart; heart ventricle septum defect; human; infancy; infant; karyotype; lymphocyte; mosaicism; prenatal diagnosis; priority journal; skin edema; skin fibroblast; trisomy 13; Adult; Chromosome Aberrations; Chromosomes, Human, Pair 13; Female; Genetic Counseling; Glycogen Storage Disease Type II; Humans; Infant; Karyotyping; Longitudinal Studies; Magnetic Resonance Imaging; Mosaicism; Pregnancy; Prenatal Diagnosis; Trisomy; Ultrasonography, Prenatal; Citrus limon |
顯示於: | 醫學系 |
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