Cargando…

Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature

Detalles Bibliográficos
Autores principales:	Hainz, Daniela, Krüger, Marcus, Reber, Daniela, Mehnert, Karl, Brunet, Theresa, Lederer, Gabriele, Langer-Freitag, Sabine, Hoefele, Julia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Singapore 2021
Materias:	Letter to Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8363535/ https://www.ncbi.nlm.nih.gov/pubmed/34260009 http://dx.doi.org/10.1007/s12519-021-00438-9

Ejemplares similares

Trisomy 9 Mosaicism Diagnosed In Utero
por: Takahashi, Hironori, et al.
Publicado: (2010)

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
por: Huijsdens-van Amsterdam, Karin, et al.
Publicado: (2012)

Pigmentary mosaicism as a recurrent clinical manifestation in three new patients with mosaic trisomy 12 diagnosed postnatally: cases report and literature review
por: Martínez-Hernández, A., et al.
Publicado: (2022)

Report of a Case with Trisomy 9 Mosaicism
por: Miryounesi, Mohammad, et al.
Publicado: (2016)

Mosaic trisomy 13 and constitutional delay in puberty
por: Eltayeb, Sara Yousif Hussein, et al.
Publicado: (2022)

The incidental discovery of a constitutional trisomy 21 mosaicism in an adult female with myelodysplastic/myeloproliferative neoplasm
por: O’Hagan Henderson, Samantha, et al.
Publicado: (2021)

Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
por: Choi, Jun Ho, et al.
Publicado: (2012)

Intrauterine Growth Retardation Fetus with Trisomy 16 Mosaicism
por: Chareonsirisuthigul, Takol, et al.
Publicado: (2014)

Mosaic trisomy 8 detected by fibroblasts cultured of skin
por: Giraldo, Gustavo, et al.
Publicado: (2016)

The significance of trisomy 7 mosaicism in noninvasive prenatal screening
por: Qi, Yiming, et al.
Publicado: (2019)

Prenatal diagnosis of mosaic trisomy 2 and literature review
por: Wang, Ting, et al.
Publicado: (2020)

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event
por: Morán‐Barroso, Verónica Fabiola, et al.
Publicado: (2021)

Mosaic Trisomy 18 in a Five-Month-Old Infant
por: Fitas, Ana Laura, et al.
Publicado: (2013)

A patient with Trisomy 13 mosaicism: review and case report
por: Mustaki, U, et al.
Publicado: (2015)

A Six-Year-Old Child With Mosaic Trisomy 13
por: Albar, Rawia F, et al.
Publicado: (2021)

Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21
por: Baca, Nicole, et al.
Publicado: (2021)

A Case of Trisomy 13 Mosaicism With Aortic Root Dilatation
por: Wang, Sarah, et al.
Publicado: (2022)

Prenatally Diagnosed Rare Trisomy 16 Mosaicism in Human Amniotic Fluid Cells in the Second Trimester: A Case Report
por: Kim, Sook Ryung, et al.
Publicado: (2018)

Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21
por: Won, Eric, et al.
Publicado: (2020)

Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report
por: Ponti, Giovanni, et al.
Publicado: (2014)

Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy
por: Davidsson, Josef, et al.
Publicado: (2013)

Complete trisomy 14 mosaicism: first live-born case in Korea
por: Hur, Yun Jung, et al.
Publicado: (2012)

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism
por: Lévy, Jonathan, et al.
Publicado: (2013)

Autopsy Report of a 7-Year Old Patient with the Mosaic Trisomy 13
por: Imataka, George, et al.
Publicado: (2013)

Rare case of live born with confirmed mosaic trisomy 17 and review of the literature
por: Baltensperger, Austin, et al.
Publicado: (2016)

COVID-19 in a mosaic trisomy 13 patient with polycystic kidney disease
por: Ost, Natalie K, et al.
Publicado: (2022)

Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening
por: Hu, Junjie, et al.
Publicado: (2022)

Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl
por: Balbeur, Samuel, et al.
Publicado: (2016)

Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
por: Iordanescu, Irina Ioana, et al.
Publicado: (2023)

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis
por: Salas-Labadía, Consuelo, et al.
Publicado: (2014)

Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports
por: Peng, Haishan, et al.
Publicado: (2021)

Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9
por: Beaudry, Sarah M., et al.
Publicado: (2021)

Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
por: Zhao, Qinfei, et al.
Publicado: (2023)

Cell‐free DNA testing in a trisomy 21 pregnancy with confined placental mosaicism for a cell line with trisomy for both chromosomes 18 and 21
por: Crooks, Kristy, et al.
Publicado: (2015)

Anesthetic experience for laparoscopic cholecystectomy in a patient with myelodysplastic syndrome with trisomy 8 mosaicism syndrome
por: Kang, Mae Hwa, et al.
Publicado: (2014)

Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
por: de Gouveia, Miguel Pinto, et al.
Publicado: (2016)

A case of placental trisomy 18 mosaicism causing a false negative NIPT result
por: Yang, Jiexia, et al.
Publicado: (2017)

Additional Evidence for Neuropsychiatric Manifestations in Mosaic Trisomy 20: A Case Report and Brief Review
por: Colizzi, Marco, et al.
Publicado: (2021)

Pancreatic hamartoma in a premature Trisomy 18 female
por: Delgado, Patricia Isabel, et al.
Publicado: (2017)

CXCL12-induced VLA-4 activation is impaired in trisomy 12 chronic lymphocytic leukemia cells: a role for CCL21
por: Ganghammer, Sylvia, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_1pj3bi8b94pl0d8ggnho852gjm