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1.
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
Int J Mol Sci
; 21(1)2019 Dec 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-31877959
2.
Prenatal diagnosis and molecular cytogenetic characterization of a de novo pure distal 9p deletion and literature review.
Genomics
; 102(4): 265-9, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23981964
3.
Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decrease of the aneuploid cell line, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, intrauterine growth restriction and a favorable fetal outcome.
Taiwan J Obstet Gynecol
; 62(4): 571-576, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37407197
4.
Mosaicism for Robertsonian jumping translocation at amniocentesis: 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, genetic counseling, prenatal diagnosis and postnatal follow-up in a pregnancy with a favorable fetal outcome.
Taiwan J Obstet Gynecol
; 62(4): 588-593, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37407201
5.
Low-level mosaic trisomy 15 at amniocentesis without uniparental disomy 15 in a pregnancy associated with cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the aneuploid cell line.
Taiwan J Obstet Gynecol
; 62(2): 358-362, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36965910
6.
Prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies.
Taiwan J Obstet Gynecol
; 62(3): 444-447, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37188451
7.
Low-level mosaic trisomy 20 without uniparental disomy 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes and perinatal progressive decrease of the aneuploid cell line.
Taiwan J Obstet Gynecol
; 62(3): 466-469, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37188456
8.
Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome.
Taiwan J Obstet Gynecol
; 62(3): 470-473, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37188457
9.
Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome.
Taiwan J Obstet Gynecol
; 62(4): 577-581, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37407198
10.
Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.
Taiwan J Obstet Gynecol
; 62(4): 582-585, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37407199
11.
Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues and a favorable fetal outcome.
Taiwan J Obstet Gynecol
; 62(4): 606-610, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37407205
12.
Concomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male.
Taiwan J Obstet Gynecol
; 62(2): 336-342, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36965905
13.
Mosaic 46,XY,dup(14) (q12q22.3)/46, XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
Taiwan J Obstet Gynecol
; 62(2): 343-347, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36965906
14.
Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes.
Taiwan J Obstet Gynecol
; 62(2): 351-353, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36965908
15.
Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
Taiwan J Obstet Gynecol
; 62(2): 354-357, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36965909
16.
Molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X;21 translocation detected by amniocentesis.
Taiwan J Obstet Gynecol
; 62(1): 123-127, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36720524
17.
Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis.
Taiwan J Obstet Gynecol
; 62(1): 128-131, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36720525
18.
Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Taiwan J Obstet Gynecol
; 62(1): 132-136, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36720526
19.
Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell line.
Taiwan J Obstet Gynecol
; 62(1): 137-141, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36720527
20.
Mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the unbalanced translocation.
Taiwan J Obstet Gynecol
; 62(1): 142-147, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36720528