Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Sheau-Wen Jan"'
Publikováno v:
Clinical Genetics. 50:156-158
Penile agenesis results from failure in the development of the genital tubercle and is rarely associated with chromosomal abnormalities. We report on an echographic prenatal diagnosis of penile agenesis associated with trisomy 13. At birth, the conto
Publikováno v:
Pediatric Radiology. 28:293-296
A sireniform infant presented with an uncommon osseous fusion of the lower limbs characterised by a fused femur, a partially fused tibia and sympus dipus with rudimentary digits and metatarsals. Associated abnormalities included sacral agenesis, a de
Publikováno v:
Fetal Diagnosis and Therapy. 13:29-34
Six of 19 fetuses with trisomy 18 confirmed by late karyotyping in the third trimester were found to have an enlarged cisterna magna (10 mm or more). For trisomy 18 conceptuses, there is a significant excess of females in both fetuses and livebirths;
Autor:
Chen-Chi Lee, Cheng-Chun Lin, Chih-Ping Chen, Sheau-Wen Jan, Wen-Lin Chen, Chun-Yu Chuang, Shuan-Pei Lin
Publikováno v:
Prenatal Diagnosis. 17:675-680
We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocen
Autor:
Schu-Rern Chern, Chen-Chi Lee, Chung-Tai Yue, Chih-Ping Chen, Sheau-Wen Jan, Fen-Fen Liu, Yi-Chin Chang
Publikováno v:
Prenatal Diagnosis. 17:571-576
We report here the observations of positive maternal serum screening tests for Down syndrome, cytogenetic and molecular analysis, and dysmorphic fetal features in a pregnancy with 18q - syndrome. A 33-year-old primigravida was referred for genetic co
Publikováno v:
American Journal of Perinatology. 14:275-279
Omphalocele-Exstrophy-Imperforate anus-Spinal defects (OEIS complex), a combination of omphalocele, exstrophy of the bladder, an imperforate anus and spinal defects, arises from a single localized defect in the early development of the mesoderm that
Publikováno v:
Prenatal Diagnosis. 17:384-388
We report a case of cephalothoracopagus janiceps monosymmetros that was diagnosed prenatally by ultrasound at 23 weeks' gestation. Obstetric ultrasound demonstrated conjoined female twins with a single fused cranial vault irregular in contour, duplic
Autor:
Jin-Cherng Sheu, Hung-Chang Lee, Fen-Fen Liu, Sheau-Wen Jan, Wen-Ta Lee, Schu-Rern Chern, Chih-Ping Chen, Tao-Yeuan Wang
Publikováno v:
Prenatal Diagnosis. 17:13-21
We report the prenatal diagnosis, pathology, cytogenetics, and molecular studies of a retroperitoneal fetus in fetu. Prenatal ultrasonography of the host fetus in the third trimester showed an anencephalic, acardiac mass with identifiable extremities
Publikováno v:
Journal of Genetic Counseling. 5:169-180
Maternal serum screening for fetal Down syndrome has been integrated into routine antenatal care in most clinics in Taiwan. We examined the attitudes toward serum screening and the possible implications in women with positive results. From January to
Publikováno v:
Prenatal Diagnosis. 16:1137-1140
We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malform