Detalles de la búsqueda
1.
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
2.
Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.
Taiwan J Obstet Gynecol
; 63(1): 77-80, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38216274
3.
Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in the second trimester in a pregnancy associated with positive non-invasive prenatal testing for trisomy 21, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome.
Taiwan J Obstet Gynecol
; 63(3): 391-393, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38802204
4.
Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome.
Taiwan J Obstet Gynecol
; 63(3): 394-397, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38802205
5.
Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.
Taiwan J Obstet Gynecol
; 63(3): 387-390, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38802203
6.
Incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome.
Taiwan J Obstet Gynecol
; 63(2): 245-249, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38485324
7.
Mosaic distal 10q deletion or 46,XY,del(10) (q26.13)/46,XY at amniocentesis and cordocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.
Taiwan J Obstet Gynecol
; 63(3): 398-401, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38802206
8.
45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birth.
Taiwan J Obstet Gynecol
; 62(4): 586-587, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37407200
9.
Mosaicism for a 15q11.2 microduplication with a normal euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the microduplication.
Taiwan J Obstet Gynecol
; 62(4): 602-605, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37407204
10.
Mosaicism for a 12p12.1p12.2 microdeletion with a normal euploid cell line at amniocentesis in a pregnancy with a favorable outcome and postnatal decrease of the aneuploid cell line with microdeletion.
Taiwan J Obstet Gynecol
; 62(5): 757-760, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37679009
11.
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
12.
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
13.
Mosaic trisomy 16 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for trisomy 16, placental trisomy 16, intrauterine growth restriction, intrauterine fetal death, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, and prenatal progressive decrease of the aneuploid cell line.
Taiwan J Obstet Gynecol
; 62(4): 597-601, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37407203
14.
High-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with congenital heart defects and intrauterine growth restriction on fetal ultrasound.
Taiwan J Obstet Gynecol
; 62(4): 594-596, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37407202
15.
Genetic counseling of a prenatally detected familial 18.79-kb Xp21.1 microduplication encompassing exon 13 of DMD in a pregnancy with no apparent phenotypic abnormalities in the male carriers in the family.
Taiwan J Obstet Gynecol
; 62(5): 754-756, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37679008
16.
High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in various tissues.
Taiwan J Obstet Gynecol
; 62(5): 749-753, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37679007
17.
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
18.
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
19.
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
20.
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