Cargando…

Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shu, X, Zou, C, Shen, Z
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Macedonian Science of Sciences and Arts 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001422/ https://www.ncbi.nlm.nih.gov/pubmed/24778570 http://dx.doi.org/10.2478/bjmg-2013-0038

Ejemplares similares

Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate
por: Mendiola, Christina, et al.
Publicado: (2022)

Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review
por: Alallah, Jubara, et al.
Publicado: (2022)

Efficacy of fetal cardiac axis evaluation in the first trimester as a screening tool for congenital heart defect or aneuploidy
por: Jung, Youn-Joon, et al.
Publicado: (2020)

Cutaneous eruption in neonate with congenital heart defect
por: Raman, Justin, et al.
Publicado: (2022)

Modern Strategy for Identification of Congenital Heart Defects in the Neonatal Period
por: Kardasevic, Mediha, et al.
Publicado: (2016)

Tunable Blood Shunt for Neonates With Complex Congenital Heart Defects
por: Garven, Ellen, et al.
Publicado: (2022)

Defective Nuclear Lamina in Aneuploidy and Carcinogenesis
por: Smith, Elizabeth R., et al.
Publicado: (2018)

21 lecciones para el siglo XXI /
por: Harari, Yuval Noah

21 lecciones para el siglo XXI /
por: Harari, Yuval N.
Publicado: (2018)

Neurometabolic changes in neonates with congenital heart defects and their relation to neurodevelopmental outcome
por: Steger, Céline, et al.
Publicado: (2022)

Consequences of aneuploidy in human fibroblasts with trisomy 21
por: Hwang, Sunyoung, et al.
Publicado: (2021)

Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX
por: Rogol, Alan D
Publicado: (2023)

An Interesting Prenatal Diagnosis: Double Aneuploidy
por: Aydin, Çetin, 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)

Screening for fetal aneuploidy and neural tube defects
por: Driscoll, Deborah A., et al.
Publicado: (2009)

Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome
por: Weijerman, Michel Emile, et al.
Publicado: (2010)

Cost-effectiveness analysis of neonatal screening of critical congenital heart defects in China
por: Tobe, Ruoyan Gai, et al.
Publicado: (2017)

The significance of neonatal thymectomy for shaping the immune system in children with congenital heart defects
por: Stosio, Małgorzata, et al.
Publicado: (2017)

Can Erythropoietin Reduce Hypoxemic Neurological Damages in Neonates With Congenital Heart Defects?
por: Ottolenghi, Sara, et al.
Publicado: (2021)

1q21.1 microduplication in a patient with mental impairment and congenital heart defect
por: SUN, GUOWEN, et al.
Publicado: (2015)

Her Heart's Mistake: Chap. xxi
por: Cumming, E. D.
Publicado: (1889)

47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature
por: Dueñas-Arias, Jesús E, et al.
Publicado: (2007)

Mosaic double aneuploidy: Down syndrome and XYY
por: Parihar, Mayur, et al.
Publicado: (2013)

Hypo-Osmotic-Like Stress Underlies General Cellular Defects of Aneuploidy
por: Tsai, Hung-Ji, et al.
Publicado: (2019)

Surgery for Congenital Heart Defects
por: Singleton, Matthew J.
Publicado: (2008)

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects
por: Rambo-Martin, Benjamin L., et al.
Publicado: (2017)

Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study
por: Wie, Jeong Ha, et al.
Publicado: (2022)

Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY
por: Song, Sophia Q., et al.
Publicado: (2022)

Neonates with critical congenital heart defects: Impact of fetal diagnosis on immediate and short-term outcomes
por: Colaco, Sylvia Michael, et al.
Publicado: (2017)

Neonatal Outcomes in Very Preterm Infants With Severe Congenital Heart Defects: An International Cohort Study
por: Norman, Mikael, et al.
Publicado: (2020)

Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature
por: Helm, Benjamin M., et al.
Publicado: (2021)

Feeding Neonates and Infants Prior to Surgery for Congenital Heart Defects: Systematic Review and Meta-Analysis
por: Bell, Douglas, et al.
Publicado: (2022)

Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy
por: Chaiyasap, Pongsathorn, et al.
Publicado: (2014)

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
por: Gug, Cristina, et al.
Publicado: (2020)

Congenital heart defects in genetics syndromes
por: Digilio, M Cristina, et al.
Publicado: (2015)

Ventricular Function in Congenital Heart Defects
por: Corno, Antonio F.
Publicado: (2016)

Polymalformative syndrome with congenital heart defect
por: Marcos, Sara Pimentel, et al.
Publicado: (2015)

Pregestational Diabetes and Congenital Heart Defects
por: Maduro, Catarina, et al.
Publicado: (2022)

Preeclampsia and Fetal Congenital Heart Defects
por: Ferreira, Bárbara D., et al.
Publicado: (2022)

Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells
por: Hwang, Sunyoung, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_j95daa56j03vgoffhcm539uhld