Chromosome 11, Partial Trisomy 11q

Last update 01 Nov 2024

Basic Info

Synonyms

11q Partial Trisomy, 11号染色体，部分三体11q, Chromosome 11, partial trisomy 11q

Introduction-

100 Clinical Results associated with Chromosome 11, Partial Trisomy 11q

100 Translational Medicine associated with Chromosome 11, Partial Trisomy 11q

0 Patents (Medical) associated with Chromosome 11, Partial Trisomy 11q

Literatures (Medical) associated with Chromosome 11, Partial Trisomy 11q

01 Jan 2017·Case Reports in Obstetrics and Gynecology

Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy

Author: Sánchez, Javier ; García-Díaz, Lutgardo ; Borrego, Salud ; Fernández-Perea, Yolanda ; Antiñolo, Guillermo

Congenital diaphragmatic hernia (CDH) is a serious birth defect with a significant mortality and morbidity. The current and constant progress in ultrasound techniques has led to the improvement of the prenatal diagnosis of this malformation. CDH is a developmental defect whose etiology is heterogeneous and takes place when the pleuroperitoneal folds and septum transversum fail to converge and fuse. Survival depends on the extent of pulmonary hypoplasia and the disease may be potentially worsened by the presence of added congenital defects. 40% of CDH cases are associated with at least one additional anomaly. The ultrasound diagnosis is established with essential signs: loss of uniform echogenicity of lungs and marked mediastinal shift. We report the case of a fetus with isolated CDH diagnosed at 21 weeks of gestation by ultrasound and confirmed by RMI, whose genetic analysis of amniotic fluid cells identified a de novo partial trisomy of the long arm of chromosome 11. Different genetic causes have been associated with CDH. Moreover, it is expectable that the use of new techniques for prenatal diagnosis will reveal novel CNVs associated with CDH and will help us to estimate the recurrence risk for this defect as well as for other associated anomalies.

01 Jul 2014·American Journal of Medical Genetics Part AQ3 · BIOLOGY

Chromosomal‐array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case

Q3 · BIOLOGY

Review

Author: Tuğ, Esra ; Yirmibeş Karaoğuz, Meral ; Perçin, Ferda E. ; Ergün, Mehmet Ali ; Kayhan, Gülsüm

Partial trisomy 11q is a rare syndrome and may be observed due to an intra‐chromosomal duplication or an inter‐chromosomal insertion. The deletions of the short arm of chromosome 12 are also uncommon structural aberrations. Only a small fraction of structural chromosome anomalies are related to the unbalanced progeny of balanced translocation carrier parents. We here report on a 10‐month‐old baby boy who shows a very mild phenotype related to unique chromosomal abnormality, partial trisomy of 11q, and partial monosomy of 12p, due to the maternal balanced reciprocal translocation (11;12). The proband showed a 49.64 Mb duplication of 11q14.1–q25 and 0.44 Mb deletion of 12p13.33 in chromosomal array analysis. Since it is known that the duplications may cause a milder phenotype than deletions. Dysmorphic facial features, minor cardiac anomalies, respiratory distress, central nervous system anomalies, and psychomotor delay observed in the patient was similar to the reported pure 11q duplication cases, while behavioral problems observed in pure monosomy 12p cases could not be evaluated due to the young age of the patient. Phenotype–genotype correlation will be discussed in view of all the reported pure partial 11q trisomies and pure partial 12p deletion cases. © 2014 Wiley Periodicals, Inc.

01 Jan 2014·Genetic counseling (Geneva, Switzerland)

Terminal deletion 6q syndrome with 11q partial trisomy mosaicism due to maternal balanced translocation.

Letter

Author: Hirao, J ; Okuya, M ; Arisaka, O ; Imataka, G

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

Chromosome 11, Partial Trisomy 11q

Basic Info

Related

Analysis