Cargando…

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature

BACKGROUND: Autosomal monosomies in human are generally suggested to be incompatible with life; however, there is quite a number of cytogenetic reports describing full monosomy of one chromosome 21 in live born children. Here, we report a cytogenetically similar case associated with congenital malfo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vorsanova, Svetlana G, Iourov, Ivan Y, Voinova-Ulas, Victoria Y, Weise, Anja, Monakhov, Victor V, Kolotii, Alexei D, Soloviev, Ilia V, Novikov, Petr V, Yurov, Yuri B, Liehr, Thomas
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2008
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442098/ https://www.ncbi.nlm.nih.gov/pubmed/18564437 http://dx.doi.org/10.1186/1755-8166-1-13

Ejemplares similares

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects
por: Iourov, Ivan Y., et al.
Publicado: (2018)

Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report.
por: Ahn, Jun Mo, et al.
Publicado: (2003)

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes
por: Cervantes, Alicia, et al.
Publicado: (2014)

A rare case of chronic myeloid leukemia with secondary chromosomal changes including partial trisomy 17q21 to 17qter and partial monosomy of 16p13.3
por: Al Achkar, Walid, et al.
Publicado: (2010)

Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature
por: Burgess, Trent, et al.
Publicado: (2014)

A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
por: Joynt, Alyssa C. M., et al.
Publicado: (2021)

Myeloid leukemia with t(7;21)(p22;q22) and 5q deletion
por: PANAGOPOULOS, IOANNIS, et al.
Publicado: (2013)

Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter)
por: Li, Y, et al.
Publicado: (2015)

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
por: Su, Meng, et al.
Publicado: (2018)

Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition
por: Migdalska, Anna M., et al.
Publicado: (2012)

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
por: Marinescu, Ponnila S, et al.
Publicado: (2015)

Telomerase activity in human leukemic cells with or without monosomy 7 or 7q-
por: Serakinci, Nedime, et al.
Publicado: (2002)

Correction: Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition
por: Migdalska, Anna M., et al.
Publicado: (2012)

A case of monosomy 21 presented with difficult tracheal intubation
por: Saito, Yoshiki, et al.
Publicado: (2022)

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature
por: Errichiello, Edoardo, et al.
Publicado: (2016)

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
por: Iourov, Ivan Y., et al.
Publicado: (2013)

Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl
por: Al Achkar, Walid, et al.
Publicado: (2010)

Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat
por: Meza-Espinoza, Juan Pablo, et al.
Publicado: (2020)

Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
por: Hashemi, A, et al.
Publicado: (2014)

Acute myeloid leukemia with t(7;21)(p22;q22) and 5q deletion: a case report and literature review
por: Ji, Jianling, et al.
Publicado: (2014)

Deletion of the App-Runx1 region in mice models human partial monosomy 21
por: Arbogast, Thomas, et al.
Publicado: (2015)

Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
por: Schuy, Jakob, et al.
Publicado: (2022)

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)
por: Chen, Rongyu, et al.
Publicado: (2014)

3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances
por: Iourov, Ivan Y., et al.
Publicado: (2015)

Corticosteroid-resistant Sweet syndrome in the setting of acute myeloid leukemia with monosomy 7 and 5q deletion
por: Roche, Fritzlaine C., et al.
Publicado: (2020)

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
por: Sogaard, Marie, et al.
Publicado: (2005)

Monosomy 18p
por: Turleau, Catherine
Publicado: (2008)

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication
por: Azad, Abul Kalam, et al.
Publicado: (2020)

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature
por: Mishra, R., et al.
Publicado: (2018)

Association between Inflammatory Infiltrates and Isolated Monosomy 22/del(22q) in Meningiomas
por: Domingues, Patrícia Henriques, et al.
Publicado: (2013)

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay
por: Fryssira, H., et al.
Publicado: (2016)

Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q
por: Zhang, Shuang, et al.
Publicado: (2023)

A Child with Psoriasis, Hypogammaglobulinemia, and Monosomy 7-Positive Myelodysplastic Syndrome
por: Özbek, Namık, et al.
Publicado: (2015)

Germline SAMD9 Mutation in Siblings with Monosomy 7 and Myelodysplastic Syndrome
por: Schwartz, Jason R., et al.
Publicado: (2017)

An Interstitial Deletion at 10q26.2q26.3
por: Iourov, Ivan Y., et al.
Publicado: (2014)

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease
por: Peng, Ying, et al.
Publicado: (2015)

Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome
por: Sheth, Frenny, et al.
Publicado: (2012)

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype
por: Pelleri, Maria Chiara, et al.
Publicado: (2016)

X chromosome aneuploidy in the Alzheimer’s disease brain
por: Yurov, Yuri B, et al.
Publicado: (2014)

Small Choroidal Melanoma with Monosomy 3
por: Ghassemi, Fariba, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_uusn98tv2nsh02smg3d7q7k1em