High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line |
| |
| Institution: | 1. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan;2. Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan;3. School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;4. Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan;5. Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan |
| |
| Abstract: | ObjectiveWe present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line.Case reportA 36-year-old, gravida 4, para 3, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X22]/46,X,idic(Y)(q11.2)4]. Prenatal ultrasound was unremarkable, and the fetus had normal male external genitalia. Repeat amniocentesis was performed at 20 weeks of gestation, and the second amniocentesis revealed a karyotype of 45,X24]/46,X,idic(Y)(q11.2)3]. Simultaneous interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed that 60% (62/103 cells) were Y-deleted cells. After genetic counseling, the parents decided to continue the pregnancy, and a 3020-g male baby was delivered with a body length of 52 cm, normal male genital organs and no phenotypic abnormalities. The karyotypes of cord blood, umbilical cord and placenta were 45,X20]/46,X,idic(Y)(q11.2)20], 45,X31]/46,X,idic(Y)(q11.2)9] and 45,X40], respectively. At age one month, FISH analysis on urinary cells and buccal mucosal cells revealed 11.5% (7/61 cells) and 13.6% (16/118 cells), respectively for mosaicism for the Y-deleted cells. At age five month, the karyotype of peripheral blood was 45,X9]/46,X,idic(Y)(q11.2)31]. FISH analysis on buccal mucosal cells showed no abnormal Y-deleted cell (0/101 cells). At age 11 month, the karyotype of peripheral blood was 45,X5]/46,X,idic(Y)(q11.2)35]. FISH analysis on 102 buccal mucosal cells showed no abnormal signals. The infant was doing well with normal physical and psychomotor development.ConclusionHigh-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis can be associated with a favorable outcome and progressive decrease of the 45,X cell line. |
| |
| Keywords: | 46 X idic(Y)(q11 2) Amniocentesis Isodicentric Yp Mosaic 45 X/46 X idic(Yp) Turner syndrome |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
