Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics

Molecular Cytogenetics
Emiy YokoyamaSara Frías

Abstract

In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar. Derivatives frequently originate from inter-chromosomal exchanges and sometimes are inherited from a parent who carries a reciprocal translocation. We present two cases with derivative chromosomes involving a 9.1 Mb 5p deletion/14.8 Mb 10p duplication in the first patient and a 19.9 Mb 5p deletion/ 18.5 Mb 9p duplication in the second patient. These long chromosomal imbalances were ascertained by aCGH but not by conventional cytogenetics. Both patients presented with a deletion of the Cri du chat syndrome region and a duplication of another genomic region. Each patient had a uniqu...Continue Reading

References

Jan 1, 1984·European Journal of Nuclear Medicine·E L Kramer, J J Sanger
Nov 23, 2005·Archives of Disease in Childhood·F H SharkeyD R FitzPatrick
Jul 30, 2008·American Journal of Medical Genetics. Part a·Lina ShaoSau W Cheung
Apr 20, 2010·American Journal of Human Genetics·Dean A RegierCarlo A Marra
Mar 13, 2012·American Journal of Medical Genetics. Part a·Daniela MelisGeneroso Andria
Jul 31, 2013·Expert Review of Molecular Diagnostics·Lisa G Shaffer, Jill A Rosenfeld
Aug 4, 2015·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Joanne M NguyenDennis J Campbell
Feb 26, 2016·Genetics and Molecular Research : GMR·G S ViannaF S Jehee
Sep 14, 2016·Indian Journal of Pediatrics·Ratna Dua PuriI C Verma
Jun 10, 2017·American Journal of Medical Genetics. Part a·Daisuke FukushiNobuaki Wakamatsu

❮ Previous
Next ❯

Citations

Oct 1, 2019·Molecular Genetics & Genomic Medicine·Samar N ChehimiLeslie D Kulikowski
Sep 2, 2019·BMJ Case Reports·Nydia Rena Benita SihombingSultana Mh Faradz

❮ Previous
Next ❯

Methods Mentioned

BETA
Feature Extraction
Fluorescence
cesarean section

Software Mentioned

Ensembl
Agilent Feature Extraction and DNA Analytics

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.