Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome |
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| 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;6. Department of Medical Laboratory Science and Biotechnology, Asia University, Taichung, Taiwan |
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| Abstract: | ObjectiveWe present progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome.Case reportA 35-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of the advanced maternal age. Amniocentesis revealed a karyotype of 45,X 6]/46,XX 14]. Among 20 colonies of cultured amniocytes, six colonies had a karyotype of 45,X, whereas the other 14 colonies had a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes revealed the result of arr GRCh37] (X) × 1 0.42] (1–22) × 2. Prenatal ultrasound findings were unremarkable. Repeat amniocentesis at 33 weeks of gestation revealed a karyotype of 45,X 13]/46,XX 7]. Among 20 colonies of cultured amniocytes, 13 colonies had a karyotype of 45,X, whereas the other seven colonies had a karyotype of 46,XX. Simultaneous interphase fluorescence in situ hybridization (FISH) analysis on 100 uncultured amniocytes revealed that 44 cells had monosomy X consistent with 44% mosaicism for 45,X, whereas the rest cells had disomy X. At 38 weeks of gestation, a 2675-g phenotypically normal female baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 45,X 12]/46,XX 28], 45,X 12]/46,XX 28] and 46,XX 40/40], respectively. When follow-up at age three months, the neonate was normal in development. The karyotypes of peripheral blood was 45,X 4]/46,XX 36], and interphase FISH analysis on 100 buccal mucosal cells showed monosomy X in 11 cells consistent with 11% mosaicism for 45,X, whereas the rest cells had disomy X.ConclusionProgressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses can be associated with a favorable outcome and postnatal progressive decrease of the 45,X cell line. |
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| Keywords: | 45 X mosaicism 45 X/46 XX Amniocentesis Mosaic turner syndrome |
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