List of works - Fuu-Jen Tsai

22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative genomic hybridization

scientific article published on 01 December 2009

A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

scientific article published on 19 November 2008

A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

scientific article published on 29 March 2008

A comparison of maternal age, sex ratio and associated major anomalies among fetal trisomy 18 cases with different cell division of error

scientific article published on 01 April 2005

A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings

scientific article published on 9 June 2010

A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings ⬇️

scientific article published on December 1, 2011

Abnormally flat facial profile on two- and three-dimensional ultrasound and array comparative genomic hybridization for the diagnosis of Pallister-Killian syndrome

scientific article published on 01 March 2010

Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay

scientific article published on 24 March 2010

Balanced Reciprocal Translocations Detected at Amniocentesis ⬇️

scientific article published on 01 December 2010

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

scientific article published on 04 March 2008

Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings

scientific article published in December 2010

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic isochromosome 20q detected at amniocentesis ⬇️

scientific article published on June 1, 2011

Cytogenetic variability in the proportion of abnormal cells between the various tissues in prenatally detected mosaic tetrasomy 12p

scientific article published on 01 December 2007

De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure ⬇️

scientific article published on September 1, 2011

Detection and comparison of cytomegalovirus DNA levels in amniotic fluid and fetal ascites in a second-trimester fetus with massive ascites, hyperechogenic bowel, ventriculomegaly and intrauterine growth restriction

scientific article published in June 2010

Detection of balanced homologous acrocentric rearrangement rea(14q14q) and low-grade X-chromosome mosaicism in a couple with repeated pregnancy losses

scientific article published on 01 June 2010

Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies: prenatal diagnosis by amniocentesis

scientific article published on 01 December 2009

Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling ⬇️

scientific article published on December 1, 2010

Inv dup del(9p): Prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization ⬇️

scientific article published on 01 March 2011

Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation

scientific article published on 22 October 2007

Limb-body wall complex in one fetus of a dizygotic twin pregnancy conceived by egg donation, in vitro fertilization and embryo transfer: prenatal diagnosis and literature review

scientific article published on December 2009

Magnetic resonance imaging demonstration of sirenomelia in one fetus of a dizygotic twin pregnancy conceived by intracytoplasmic sperm injection, in vitro fertilization and embryo transfer ⬇️

scientific article published on 01 December 2011

Microvillus Inclusion Disease: Prenatal Ultrasound Findings, Molecular Diagnosis and Genetic Counseling of Congenital Diarrhea ⬇️

scientific article published on December 1, 2010

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses ⬇️

scientific article published on September 1, 2010

Mosaic tetrasomy 12p with discrepancy between fetal tissues and extraembryonic tissues: molecular analysis and possible mechanism of formation

scientific article published on 01 June 2010

Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses

scientific article published on September 2010

NFkappaB2 gene duplication is associated with fetal pyelectasis in partial trisomy 10q (10q24.1 --> qter)

scientific article published on 01 April 2008

Partial Trisomy 10q (10q25.1 →qter) and Partial Monosomy 13q (13q34→qter) Presenting With Fetal Pyelectasis: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization ⬇️

scientific article published on 01 December 2010

Partial Trisomy 16p (16p12.2→pter) and Partial Monosomy 22q (22q13.31 →qter) Presenting With Fetal Ascites and Ventriculomegaly: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization ⬇️

scientific article published on 01 December 2010

Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization ⬇️

scientific article published on 01 June 2011

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 21 ⬇️

scientific article published on 01 September 2010

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 22 ⬇️

scientific article published on 01 September 2010

Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p ⬇️

scientific article published on 01 June 2011

Prenatal diagnosis and molecular analysis of triploidy in a fetus with intrauterine growth restriction, relative macrocephaly and holoprosencephaly

scientific article published on 01 September 2009

Prenatal diagnosis and molecular analysis of trisomy 13 mosaicism

scientific article published on 01 September 2009

Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly

scientific article

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

scientific article published on 01 June 2010

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly

scientific article published on September 2010

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4 ⬇️

scientific article published on 01 June 2011

Prenatal diagnosis of 46,XX,DER(13;21)(Q10;Q10),+21 and transient abnormal myelopoiesis in a fetus with hepatosplenomegaly and spontaneous resolution of fetal ascites

scientific article published on 01 March 2009

Prenatal diagnosis of X-linked myotubular myopathy

scientific article published on 01 February 2010

Prenatal diagnosis of a 4.9-Mb deletion of 10q11.21 --> q11.23 by array comparative genomic hybridization

scientific article published on 01 March 2010

Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter)

scientific article published on 01 May 2008

Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele

scientific article published on 01 September 2008

Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review

scientific article (publication date: September 2011)

Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis

Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester ⬇️

scientific article published on 01 September 2012

Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization in pregnancy with abnormal ultrasound findings detected in late second and third trimesters

scientific article published on 01 March 2010

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18.

scientific article published in March 2010

Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

scientific article published in March 2012

Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes

scientific article published on 01 December 2009

Trisomy 13 mosaicism associated with cyclopia and cystic hygroma

scientific article published on 01 December 2009

Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis

scientific article published on 01 December 2009

Unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis

scientific article published on 01 March 2010

Unbalanced reciprocal translocations at amniocentesis ⬇️

scientific article published on 01 March 2011

List of works by Fuu-Jen Tsai

22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative genomic hybridization

A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay

A comparison of maternal age, sex ratio and associated major anomalies among fetal trisomy 18 cases with different cell division of error

A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings

A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings ⬇️

Abnormally flat facial profile on two- and three-dimensional ultrasound and array comparative genomic hybridization for the diagnosis of Pallister-Killian syndrome

Apert syndrome associated with upper airway obstruction and gastroesophageal reflux inducing polyhydramnios in the third trimester

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay

Balanced Reciprocal Translocations Detected at Amniocentesis ⬇️

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic isochromosome 20q detected at amniocentesis ⬇️

Cytogenetic variability in the proportion of abnormal cells between the various tissues in prenatally detected mosaic tetrasomy 12p

De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure ⬇️

Detection and comparison of cytomegalovirus DNA levels in amniotic fluid and fetal ascites in a second-trimester fetus with massive ascites, hyperechogenic bowel, ventriculomegaly and intrauterine growth restriction

Detection of balanced homologous acrocentric rearrangement rea(14q14q) and low-grade X-chromosome mosaicism in a couple with repeated pregnancy losses

Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies: prenatal diagnosis by amniocentesis

Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling ⬇️

Inv dup del(9p): Prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization ⬇️

Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation

Limb-body wall complex in one fetus of a dizygotic twin pregnancy conceived by egg donation, in vitro fertilization and embryo transfer: prenatal diagnosis and literature review

Magnetic resonance imaging demonstration of sirenomelia in one fetus of a dizygotic twin pregnancy conceived by intracytoplasmic sperm injection, in vitro fertilization and embryo transfer ⬇️

Microvillus Inclusion Disease: Prenatal Ultrasound Findings, Molecular Diagnosis and Genetic Counseling of Congenital Diarrhea ⬇️

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses ⬇️

Mosaic tetrasomy 12p with discrepancy between fetal tissues and extraembryonic tissues: molecular analysis and possible mechanism of formation

Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses

NFkappaB2 gene duplication is associated with fetal pyelectasis in partial trisomy 10q (10q24.1 --> qter)

Partial Trisomy 10q (10q25.1 →qter) and Partial Monosomy 13q (13q34→qter) Presenting With Fetal Pyelectasis: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization ⬇️

Partial Trisomy 16p (16p12.2→pter) and Partial Monosomy 22q (22q13.31 →qter) Presenting With Fetal Ascites and Ventriculomegaly: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization ⬇️

Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization ⬇️

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 21 ⬇️

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 22 ⬇️

Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p ⬇️

Prenatal diagnosis and molecular analysis of triploidy in a fetus with intrauterine growth restriction, relative macrocephaly and holoprosencephaly

Prenatal diagnosis and molecular analysis of trisomy 13 mosaicism

Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly

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

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4 ⬇️

Prenatal diagnosis of 46,XX,DER(13;21)(Q10;Q10),+21 and transient abnormal myelopoiesis in a fetus with hepatosplenomegaly and spontaneous resolution of fetal ascites

Prenatal diagnosis of X-linked myotubular myopathy

Prenatal diagnosis of a 4.9-Mb deletion of 10q11.21 --> q11.23 by array comparative genomic hybridization

Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-->pter) and partial trisomy 10q (10q25.1-->qter)

Prenatal diagnosis of mosaic 1q31.3q32.1 trisomy associated with occipital encephalocele

Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review

Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis

Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester ⬇️

Rapid genome-wide aneuploidy diagnosis using uncultured amniocytes and array comparative genomic hybridization in pregnancy with abnormal ultrasound findings detected in late second and third trimesters

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18.

Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes

Trisomy 13 mosaicism associated with cyclopia and cystic hygroma

Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis

Unbalanced and balanced heterologous acrocentric rearrangements involving chromosome 21 at amniocentesis

Unbalanced reciprocal translocations at amniocentesis ⬇️