Výsledky vyhledávání - "Chih‐Ping Chen"

Akademický článek

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)

Autor: Chih-Ping Chen, Chen-Yu Chen, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 913-917 (2024)

Objective: We present prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis (CMA) in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11) (p11.2p13)ins(11) (q21p11.2p13) and maternal intrachromoso

Externí odkaz: https://doaj.org/article/1f8948be708c4dcb8d40f60e4532930f

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Akademický článek

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

Autor: Chih-Ping Chen, Shun-Long Weng, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Wen-Lin Chen, Chien-Wen Yang, Wayseen Wang

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 909-912 (2024)

Objective: We present first-trimester application of expanded non-invasive prenatal testing (NIPT) 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.

Externí odkaz: https://doaj.org/article/08715fcd276149e3925dea0af7175041

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Akademický článek

Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line

Autor: Chih-Ping Chen, Yi-Yung Chen, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wayseen Wang

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 931-934 (2024)

Objective: We present prenatal diagnosis of mosaic trisomy 21 at amniocentesis associated with unbalanced Robertsonian translocation in the fetus and a favorable fetal outcome. Case Report: A 41-year-old, primigravid woman underwent amniocentesis at

Externí odkaz: https://doaj.org/article/65cf8a3ecaf54f3683ac337e53c9982f

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Akademický článek

Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome

Autor: Chih-Ping Chen, Jian-Pei Huang, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Wayseen Wang

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 918-921 (2024)

Objective: We present application of chromosome microarray analysis (CMA) in the detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 in a second-trimester fetus with multiple congenital anomalies on fetal ultrasound. Case Report: A 30-ye

Externí odkaz: https://doaj.org/article/42548832d7884df9b532af9d9df7a030

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Akademický článek

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 novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound

Autor: Chih-Ping Chen, Jian-Pei Huang, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 922-926 (2024)

Objective: We present prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis (CMA) in a fetus with multiple congenital anomalies on fetal ultrasound. Case Report: A

Externí odkaz: https://doaj.org/article/5003a87398b74acfbfd1d20f9dd33506

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Akademický článek

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line

Autor: Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Meng-Shan Lee, Wayseen Wang

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 927-930 (2024)

Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line. Case Report: A 36-year-old, primigravid woma

Externí odkaz: https://doaj.org/article/bbc751681b434522b15a8dae6125fb92

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Akademický článek

Genetic counseling of mosaicism for balanced or unbalanced translocation with a normal cell line at amniocentesis

Autor: Chih-Ping Chen

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 5, Pp 618-623 (2024)

Genetic counseling of mosaicism for balanced translocation with a normal cell line at amniocentesis is not difficult because most of the reported cases have normal phenotypes. However, genetic counseling of mosaicism for unbalanced translocation with

Externí odkaz: https://doaj.org/article/9fa0c92deb2548169c357327650a6194

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Akademický článek

Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis

Autor: Chih-Ping Chen

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 5, Pp 624-627 (2024)

Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic duplication due to partial trisomy has been reported to b

Externí odkaz: https://doaj.org/article/292b93f84a344c39860de93509f16c28

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Akademický článek

Genetic counseling of mosaicism for a deletion due to partial monosomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis

Autor: Chih-Ping Chen

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 5, Pp 628-632 (2024)

Genetic counseling of mosaicism for a deletion due to partial monosomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic deletion due to partial monosomy has been reported to be as

Externí odkaz: https://doaj.org/article/32254dfefdf541fba8a40346ab6f3b41

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Akademický článek

Genetic counseling of mosaic and non-mosaic tetrasomy 9p at prenatal diagnosis

Autor: Chih-Ping Chen

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 5, Pp 633-636 (2024)

Genetic counseling of mosaic and non-mosaic tetrasomy 9p remains difficult because of the possible associated congenital abnormalities, cytogenetic discrepancy in various tissues, true-positive and false-positive diagnosis in non-invasive prenatal te

Externí odkaz: https://doaj.org/article/39683af4052345d6af54ded565196c02

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