Cargando…

Prenatal Diagnosis of Placental Mesenchymal Dysplasia with 46, X, Isochromosome Xq/45, X Mosaicism

Placental mesenchymal dysplasia is an uncommon vascular anomaly of the placenta with characteristics of placentomegaly and multicystic appearance and with or without association with fetal chromosomal anomaly. We present a unique placental mesenchymal dysplasia patient with amniotic fluid karyotypin...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hsu, Chin-Chieh, Lee, Chien-Hong, Chang, Shuenn-Dyh, Ko, Tsang-Ming, Ueng, Shir-Hwa, Chen, Yu-Hsiu, Wang, Mei-Chia, Chang, Yao-Lung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871973/ https://www.ncbi.nlm.nih.gov/pubmed/35205290 http://dx.doi.org/10.3390/genes13020245

Ejemplares similares

Mosaic Turner Syndrome With 45,X/46,XY Mosaicism and Apparent Absent Uterus
por: Alhajjaj, Alya, et al.
Publicado: (2021)

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism
por: De Groote, Katya, et al.
Publicado: (2013)

A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar
por: Soheilipour, Fahimeh, et al.
Publicado: (2014)

Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association
por: Kumar, Jeevan M., et al.
Publicado: (2011)

45,X/46,XY Mosaicism and Normozoospermia in a Patient with Male Phenotype
por: Ketheeswaran, Shathmigha, et al.
Publicado: (2019)

Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism
por: Takahashi, Ken, et al.
Publicado: (2020)

Placental glucose transporter 1 and 3 gene expression in Monochorionic twin pregnancies with selective fetal growth restriction
por: Chang, Yao-Lung, et al.
Publicado: (2021)

Isochromosome Mosaic Turner Syndrome: A Case Report
por: Llanes, Mark Ramon Victor, et al.
Publicado: (2019)

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
por: Cetin, Z, et al.
Publicado: (2011)

Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies
por: Farrugia, M.K., et al.
Publicado: (2013)

Effects of inter-twin vascular anastomoses of monochorionic twins with selective intrauterine growth restriction on the contents of placental mitochondria DNA
por: Chang, Yao-Lung, et al.
Publicado: (2018)

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism
por: Pan, Lili, et al.
Publicado: (2019)

High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46,XY mosaicism
por: Li, Leilei, et al.
Publicado: (2020)

Serum Concentrations and Gonadal Expression of INSL3 in Eighteen Males With 45,X/46,XY Mosaicism
por: Ljubicic, Marie Lindhardt, et al.
Publicado: (2021)

Clinical and hormonal characteristics and growth data of 45,X/46,XY mosaicism in 38 Chinese patients
por: Yang, Jiaoru, et al.
Publicado: (2023)

A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism
por: Wong, Wai Yu, et al.
Publicado: (2023)

Effect of Hypoxia on Glucose Transporter 1 and 3 Gene Expression in Placental Mesenchymal Stem Cells Derived from Growth-Restricted Fetuses
por: Chang, Yao-Lung, et al.
Publicado: (2022)

Placental erythropoietin expression is upregulated in growth-restricted fetuses with abnormal umbilical artery Doppler findings: a case–control study of monochorionic twins
por: Chang, Yao-Lung, et al.
Publicado: (2018)

45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome
por: Han, Yu, et al.
Publicado: (2023)

Effect of Fetoscopic Laser Photocoagulation on Fetal Growth and Placental Perfusion in Twin–Twin Transfusion Syndrome
por: Chang, Yao-Lung, et al.
Publicado: (2022)

Hormonal suppression of mini-puberty in a neonate with mosaic 45X/46XY disorder of sexual development
por: Kaefer, Martin, et al.
Publicado: (2020)

45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea : A Case Report*
por: Lau, Eunice Yi Chwen, et al.
Publicado: (2020)

Hypospadias in a male infant with an unusual mosaic 45,X/46,X,psu idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case report
por: Si, Yan-Mei, et al.
Publicado: (2017)

Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
por: Mačkić-Đurović, Mirela, et al.
Publicado: (2018)

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
por: Rosa, Rafael Fabiano Machado, et al.
Publicado: (2014)

Diagnosis of a Chinese man with 45,X/46,X,i(Y)(q10)/47,X,i(Y) (q10) ×2 mosaic Turner syndrome
por: Sha, Yan-Wei, et al.
Publicado: (2018)

45,X/47,XXX Mosaicism and Short Stature
por: Everest, Erica, et al.
Publicado: (2015)

Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype
por: Becker, Russell E.N., et al.
Publicado: (2016)

SAT-217 A Spontaneous and Uneventful Pregnancy in a Turner Syndrome Patient with 45,X[22]/46,X,+Mar[2]/46,Xx[1] Mosaicism: Case Report and Literature Review
por: Scalco, Renata, et al.
Publicado: (2019)

A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
por: Zhang, Lei, et al.
Publicado: (2013)

Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
por: Lam-Chung, César Ernesto, et al.
Publicado: (2021)

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)
por: Ye, Yuhong, et al.
Publicado: (2020)

A novel locus for X-linked congenital cataract on Xq24
por: Craig, Jamie E., et al.
Publicado: (2008)

Frequency and clinical significance of chromosomal inversions prenatally diagnosed by second trimester amniocentesis
por: Chien, Chih-Wei, et al.
Publicado: (2022)

Retracted: A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
por: in Endocrinology, Case Reports
Publicado: (2022)

A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning
por: Villa, N., et al.
Publicado: (2017)

A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221)
por: Clement, Arthur, et al.
Publicado: (2022)

Identification and Characterization of Nine Novel X-Chromosomal Short Tandem Repeats on Xp21.1, Xq21.31, and Xq23 Regions
por: Yang, Qinrui, et al.
Publicado: (2021)

Distal Xq duplication and functional Xq disomy
por: Sanlaville, Damien, et al.
Publicado: (2009)

Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case
por: Lamanna, Bruno, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_m5v4a7td14iqcv3mlrjerj3ca0