Cargando…

Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up

BACKGROUND: Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype. CASE PRESENTATION: We report a clinical and cytog...

Descripción completa

Detalles Bibliográficos
Autores principales:	Meloni, Vera Ayres, Takeno, Sylvia Satomi, Pilla, Ana Luiza, de Mello, Claudia Berlim, Melaragno, Maria Isabel, Kulikowski, Leslie Domenici
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151026/ https://www.ncbi.nlm.nih.gov/pubmed/25184002 http://dx.doi.org/10.1186/s13039-014-0057-8

Ejemplares similares

19q13.33→qter trisomy in a girl with intellectual impairment and seizures
por: Carvalheira, Gianna, et al.
Publicado: (2014)

Terminal 18q deletions are stabilized by neotelomeres
por: Guilherme, Roberta Santos, et al.
Publicado: (2015)

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

Duplication 9p and their implication to phenotype
por: Guilherme, Roberta Santos, et al.
Publicado: (2014)

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)

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
por: Mohamed, A. M., et al.
Publicado: (2018)

Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report
por: Yue, Fagui, et al.
Publicado: (2019)

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination
por: Peterman, Leia A., et al.
Publicado: (2020)

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)

Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
por: Papadopoulou, Zoe, et al.
Publicado: (2017)

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)

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome
por: Costa, Larissa Sampaio de Athayde, et al.
Publicado: (2015)

The impact of monosomies, trisomies and segmental aneuploidies on chromosomal stability
por: Hintzen, Dorine C., et al.
Publicado: (2022)

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)

Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies
por: Zhang, Jingbo, et al.
Publicado: (2020)

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)

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22
por: Kashevarova, Anna A., et al.
Publicado: (2018)

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature
por: Wei, Yuan, et al.
Publicado: (2012)

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
por: Brooks, Brian P, et al.
Publicado: (2006)

Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report
por: Karaman, A, et al.
Publicado: (2020)

Partial trisomy 16q and partial monosomy 7p of a fetus derivated from paternal balanced translocation: A case report
por: Xie, Hui-Hui, et al.
Publicado: (2021)

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)

Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia
por: Wang, Jian, et al.
Publicado: (2021)

Delineation of 2q32q35 Deletion Phenotypes: Two Apparent “Proximal” and “Distal” Syndromes
por: Mc Cormack, Adrian, et al.
Publicado: (2013)

Delineating the Cytogenomic and Epigenomic Landscapes of Glioma Stem Cell Lines
por: Baronchelli, Simona, et al.
Publicado: (2013)

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
por: Zanardo, Évelin Aline, et al.
Publicado: (2017)

Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization
por: Shin, Yong Beom, et al.
Publicado: (2008)

Oral Characteristics of Trisomy 8 and Monosomy 18: A Case Report
por: Spano, Giovanni, et al.
Publicado: (2011)

An unusual combination of trisomy 21 and partial trisomy 5q.
por: Kim, C. J., et al.
Publicado: (1992)

Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development
por: Faria, José Antonio Diniz, et al.
Publicado: (2023)

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

Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren's Syndrome: The First Case Report from India
por: Sanap, Rupesh R., 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)

Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
por: Kim, Yeo-Hyang, et al.
Publicado: (2013)

Adult case of partial trisomy 9q
por: Tiong, Keith, et al.
Publicado: (2010)

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population
por: Zhuang, Jianlong, et al.
Publicado: (2022)

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

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)

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
por: Vorsanova, Svetlana G, et al.
Publicado: (2008)

Cytogenomic epileptology
por: Iourov, Ivan Y., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_8hsmbi6ba2hdctinb4h79gelnq