147 results on '"Chen, Wen-Lin"'
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2. 45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes
3. Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome
4. Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome
5. High-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive NIPT for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and intrauterine fetal death in late gestation
6. Low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and perinatal progressive decrease of the aneuploid cell line
7. Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly
8. Prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies
9. 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
10. Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues
11. Detection of mosaicism for 46,X,i(Y) (q10) in the blood lymphocytes in a phenotypically normal male neonate with prenatally detected 45,X/46, XY at amniocentesis and cytogenetic discrepancy in various tissues
12. 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
13. Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18
14. Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome
15. Detection of paternal origin of fetal de novo rea(21q;21q) down syndrome in a pregnancy of a young woman associated with an abnormal first-trimester maternal serum screening result
16. Prenatal diagnosis and molecular cytogenetic characterization of a familial small supernumerary marker chromosome derived from the acrocentric chromosome 14/22
17. Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic 46,XX,dup(9)(q22.3q34.1)/46,XX at amniocentesis in a pregnancy with a favorable outcome
18. 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
19. Application of array comparative genomic hybridization analysis for rapid differential diagnosis of a chromosome euchromatic variant of dup 22q13.3 at amniocentesis
20. Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin
21. Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome
22. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia
23. Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin
24. Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome
25. Prenatal diagnosis of a familial normal euchromatic variant of dup(15)(q11.2q11.2) in a pregnancy with a favorable outcome
26. Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound
27. Prenatal diagnosis of mosaicism for trisomy 12 in a single colony at amniocentesis in a pregnancy with a favorable outcome
28. Prenatal diagnosis and molecular cytogenetic characterization of a de novo interchromosomal insertion of ins(1;8)(p22.1;q22q23)
29. Prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome and a review of mosaic distal 5p deletion
30. Prenatal diagnosis and molecular cytogenetic characterization of de novo distal 5p deletion and distal 22q duplication
31. Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects
32. Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound
33. Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay
34. Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability
35. A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
36. Higher male prevalence of chromosomal mosaicism detected by amniocentesis
37. Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism
38. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21
39. Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome
40. Prenatal diagnosis of mosaicism for trisomy 15 in a single colony at amniocentesis with a favorable fetal outcome
41. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities
42. Prenatal diagnosis and molecular cytogenetic characterization of a de novo3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin
43. Prenatal diagnosis and molecular cytogenetic characterization of de novodistal 5p deletion and distal 22q duplication
44. Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novounbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound
45. First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat
46. Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13) and maternal intrachromosomal insertion of ins(11)(q21p11.2p13)
47. Mosaic distal 9p deletion or 46,XY,del(9)(p23)/46,XY at amniocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome
48. 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
49. 22q13 deletion syndrome in a fetus associated with microtia, hemivertebrae, and congenital heart defects on prenatal ultrasound
50. Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia
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