Zobrazeno 1 - 10 of 76 pro vyhledávání: '"Chyi-Chyang Lin"'
1
Akademický článek
Prenatal detection and characterization of a psu idic(8)(p23.3) which likely derived from nonallelic homologous recombination between two MYOM2-repeats
Autor: Yueh-Chun Li, Shu-Chin Chien, Sunita R. Setlur, Wei-De Lin, Fuu-Jen Tsai, Chyi-Chyang Lin
Publikováno v: Journal of the Formosan Medical Association, Vol 114, Iss 1, Pp 81-87 (2015)
Mosaicism with an isodicentric 8 with a breakpoint at p23.3 [idic(8)(p23.3)] is very rare. We report the first prenatal case on a male fetus, in which obstetric ultrasound revealed multiple congenital anomalies at 28 weeks of gestation. Cytogenetic a
Externí odkaz: https://doaj.org/article/fa46d39bcde64098b2ecb3fba74c7b01
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2
Akademický článek
Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract
Autor: Yu-Tzu Chang, I-Ching Chou, Chung-Hsing Wang, Zheng-Nan Chin, Huang-Tsung Kuo, Chyi-Chyang Lin, Chang-Hai Tsai, Fuu-Jen Tsai
Publikováno v: Pediatrics and Neonatology, Vol 54, Iss 2, Pp 132-136 (2013)
Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25–10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardat
Externí odkaz: https://doaj.org/article/50b527328a114372ae2a9264b58b54ae
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3
Akademický článek
Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly
Autor: Pi-Lin Sung, Chia-Ming Chang, Chih-Yao Chen, Peng-Hui Wang, Kuan-Chong Chao, Kuo-Chang Wen, Yung-Yung Cheng, Yueh-Chun Li, Chyi-Chyang Lin
Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 51, Iss 2, Pp 260-265 (2012)
Objective: To present a prenatal diagnosis of microdeletion 16p13.11 with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly. Case Report: A 41-y
Externí odkaz: https://doaj.org/article/043d4969ccd94cdc88453718c78f5fc6
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5
Akademický článek
Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived from Chromosome 18 and Associated With a Reciprocal Translocation Involving Chromosomes 17 And 18
Autor: Chih-Ping Chen, Chyi-Chyang Lin, Yi-Ning Su, Fuu-Jen Tsai, Ju-Ting Chen, Schu-Rern Chern, Chen-Chi Lee, Dai-Dyi Town, Li-Feng Chen, Pei-Chen Wu, Wayseen Wang
Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 49, Iss 2, Pp 188-191 (2010)
Objective: Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives rise to difficulties in genetic counseling, and requires molecular cytogenetic technologies such as spectral karyotyping, fluorescence in situ hybridization, multico
Externí odkaz: https://doaj.org/article/bd657caea7ab4bfea5a75abc1a6a4758
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6
Akademický článek
Prenatal Diagnosis of mos45,X/46,X,+mar in a Fetus With Normal Male External Genitalia and a Literature Review
Autor: Shu-Chin Chien, Chih-Ping Chen, Chyi-Chyang Lin, Li-Chia Huang, Cheng-Tiao Hsieh, Fuu-Jen Tsai
Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 48, Iss 3, Pp 292-295 (2009)
Objective: Prenatal diagnosis of mos45,X/46,X,+mar is difficult in genetic counseling. Patients with the presence of a Y-derived marker may manifest male or female external genitalia. Here, we report a fetus with phenotypically male external genitali
Externí odkaz: https://doaj.org/article/f799661a97b14b228f1298c8792b5184
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7
Akademický článek
Prenatal Diagnosis of Partial Trisomy 3p (3p21→pter) and Partial Monosomy 11q (11q23→qter) Associated with Abnormal Sonographic Findings of Holoprosencephaly, Orofacial Clefts, Pyelectasis and a Unilateral Duplex Renal System
Autor: Chih-Ping Chen, Tzu-Hao Wang, Chyi-Chyang Lin, Fuu-Jen Tsai, Lie-Jiau Hsieh, Wayseen Wang
Publikováno v: Journal of the Formosan Medical Association, Vol 107, Iss 10, Pp 822-826 (2008)
Patients with partial trisomy 3p seldom present major dysmorphic features, and holoprosencephaly occurs in only 10% of the cases with partial trisomy 3p. It has been suggested that multiple genetic hits or environmental exposures are required for the
Externí odkaz: https://doaj.org/article/ae60b007337f4d19bf9851475437f4e4
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