Cargando…

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

BACKGROUND: Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic features, and systemic malformations with limited post-natal survival. Most of the cas...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mishra, R., Paththinige, C. S., Sirisena, N. D., Nanayakkara, S., Kariyawasam, U. G. I. U., Dissanayake, V. H. W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759277/ https://www.ncbi.nlm.nih.gov/pubmed/29310616 http://dx.doi.org/10.1186/s12887-017-0980-z

Ejemplares similares

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
por: Paththinige, C. S., et al.
Publicado: (2018)

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)

Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report
por: Cao, Dingya, et al.
Publicado: (2021)

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)

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)

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 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)

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

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury
por: Osei-Owusu, Ikeoluwa A., et al.
Publicado: (2020)

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

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 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy
por: Ribacoba, Renee, et al.
Publicado: (2008)

A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
por: Upadia, Jariya, et al.
Publicado: (2018)

Polycystic ovary syndrome due to the novel translocation 46XX t(2;9)(q21;p24)
por: Finsterer, Josef
Publicado: (2023)

Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features
por: Al-Sarraj, Yasser, et al.
Publicado: (2014)

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans
por: Paththinige, Chamara S., et al.
Publicado: (2019)

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia
por: Purandare, Smita M, et al.
Publicado: (2008)

Aggressive Clinicopathological Course of Myeloma with t(3;16) (q21;q22) Cytogenetic Abnormality
por: Bozkurt, Süreyya, et al.
Publicado: (2019)

Mid-trimester dilated fetal bowel leading to diagnosis of interstitial duplication 46,XX,dup(8)(q21.13q21.2) associated with extensive neonatal jejuno-ileal atresia
por: Sherer, David M., et al.
Publicado: (2022)

A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH
por: Bhola, Shama L., et al.
Publicado: (2018)

Common variants at 2q37.3, 8q24.21, 15q21.3, and 16q24.1 influence chronic lymphocytic leukemia risk
por: Crowther-Swanepoel, Dalemari, et al.
Publicado: (2010)

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)

A first case of primary amenorrhea with i(X)(qter---q10::---qter), rob(13;14)(q10;q10), inv(9)(p13q33) karyotype
por: Korgaonkar, Seema, et al.
Publicado: (2011)

Association between Variants on Chromosome 4q25, 16q22 and 1q21 and Atrial Fibrillation in the Polish Population
por: Kiliszek, Marek, et al.
Publicado: (2011)

The 4q25, 1q21, and 16q22 polymorphisms and recurrence of atrial fibrillation after pulmonary vein isolation
por: Kiliszek, Marek, et al.
Publicado: (2016)

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
por: Coton, Julie, et al.
Publicado: (2018)

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
por: Paththinige, C. S., et al.
Publicado: (2016)

An unusual case of chronic lymphocytic leukemia with trisomy 12 presenting with prolymphocytic transformation and t(8;21)(q22;q22)
por: Bhushan, Mishi, et al.
Publicado: (2021)

Chromosome 13q deletion syndrome involving 13q31-qter: A case report
por: Wang, Yue-Ping, et al.
Publicado: (2017)

Acute Myeloid Leukemia with t(8;21)(q22;q22) and Trisomy 4: A Rare Occurrence in a Female Child
por: Kamran, Shawana, et al.
Publicado: (2019)

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event
por: Genesio, Rita, et al.
Publicado: (2013)

ent-(15S)-Pimar-8(14)-ene-15,16-diol
por: Fun, Hoong-Kun, et al.
Publicado: (2012)

Mild phenotypes associated with an unbalanced X‐autosome translocation, 46,X,der(X)t(X;8)(q28;q13)
por: Watanabe, Takafumi, et al.
Publicado: (2018)

Mutations and karyotype in myelodysplastic syndromes: TP53 clusters with monosomal karyotype, RUNX1 with trisomy 21, and SF3B1 with inv(3)(q21q26.2) and del(11q)
por: Tefferi, Ayalew, et al.
Publicado: (2017)

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)

Genetic determinants of inherited susceptibility to hypercholesterolemia – a comprehensive literature review
por: Paththinige, CS, et al.
Publicado: (2017)

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
por: Morokawa, Hirokazu, et al.
Publicado: (2018)

Association studies between chromosomal regions 1q21.3, 5q21.3, 14q21.2 and 17q21.31 and numbers of children in Poland
por: Clark, Jeremy S. C., et al.
Publicado: (2022)

A novel unbalanced de novo translocation der(5)t(4;5)(q26;q21.1) in adult T-cell precursor lymphoblastic leukemia
por: Kjeldsen, Eigil, et al.
Publicado: (2012)

Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia
por: Silva, Maria Luiza Macedo, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_ctmdu1mraesvfd7e5hi95oh8tg