Ring Autosomes: Some Unexpected Findings

Ring Autosomes: Some Unexpected Findings

Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various breakpoints and sometimes there is a dynamic mosaicism that is reflected in clinical features. Most of the ring chromosomes are de novo occurrences...

Full description

Bibliographic Details
Main Authors: Caba L., Rusu C., Plăiaşu V., Gug G., Grămescu M., Bujoran C., Ochiană D., Voloşciuc M., Popescu R., Braha E., Pânzaru M., Butnariu L., Sireteanu A., Covic M., Gorduza E.V.
Format: Article
Language:English
Published: Sciendo 2012-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
chromosomal instability
variable phenotype
mosaicism
rare disease
ring chromosome
Online Access:https://doi.org/10.2478/bjmg-2013-0005
id doaj-6d1b203ff4a84347bac77a22ffdcca17
record_format Article
spelling doaj-6d1b203ff4a84347bac77a22ffdcca172021-09-05T21:00:30ZengSciendoBalkan Journal of Medical Genetics1311-01602012-12-01152354610.2478/bjmg-2013-0005Ring Autosomes: Some Unexpected FindingsCaba L.0Rusu C.1Plăiaşu V.2Gug G.3Grămescu M.4Bujoran C.5Ochiană D.6Voloşciuc M.7Popescu R.8Braha E.9Pânzaru M.10Butnariu L.11Sireteanu A.12Covic M.13Gorduza E.V.14“Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, Romania“Sf. Maria” Pediatric Hospital Iasi, Department of Medical Genetics, Iasi, Romania“Prof. dr. Alfred Rusescu” Institute for Mother and Child Care Bucharest, Department of Medical Genetics, Bucharest, Romania“Victor Babeş” University of Medicine and Pharmacy Timisoara, Department of Medical Genetics, Timisoara, Romania“Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, Romania“Sf. Maria” Pediatric Hospital Iasi, Department of Medical Genetics, Iasi, Romania“Prof. dr. Alfred Rusescu” Institute for Mother and Child Care Bucharest, Department of Medical Genetics, Bucharest, Romania“Sf. Maria” Pediatric Hospital Iasi, Department of Medical Genetics, Iasi, Romania“Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, Romania“Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, Romania“Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, Romania“Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, Romania“Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, Romania“Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, Romania“Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, RomaniaRing chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various breakpoints and sometimes there is a dynamic mosaicism that is reflected in clinical features. Most of the ring chromosomes are de novo occurrences. Our study reflects the experience of three Romanian cytogenetic laboratories in the field of ring chromosomes. We present six cases with ring chromosomes involving chromosomes 5, 13, 18, and 21. All ring chromosomes were identified after birth in children with plurimalformative syndromes. The ring chromosome was present in mosaic form in three cases, and this feature reflects the ring’s instability. In case of ring chromosome 5, we report a possible association with oculo-auriculo-vertebral spectrum.https://doi.org/10.2478/bjmg-2013-0005chromosomal instabilityvariable phenotypemosaicismrare diseasering chromosome
collection DOAJ
language English
format Article
sources DOAJ
author Caba L.
Rusu C.
Plăiaşu V.
Gug G.
Grămescu M.
Bujoran C.
Ochiană D.
Voloşciuc M.
Popescu R.
Braha E.
Pânzaru M.
Butnariu L.
Sireteanu A.
Covic M.
Gorduza E.V.
spellingShingle Caba L.
Rusu C.
Plăiaşu V.
Gug G.
Grămescu M.
Bujoran C.
Ochiană D.
Voloşciuc M.
Popescu R.
Braha E.
Pânzaru M.
Butnariu L.
Sireteanu A.
Covic M.
Gorduza E.V.
Ring Autosomes: Some Unexpected Findings
Balkan Journal of Medical Genetics
chromosomal instability
variable phenotype
mosaicism
rare disease
ring chromosome
author_facet Caba L.
Rusu C.
Plăiaşu V.
Gug G.
Grămescu M.
Bujoran C.
Ochiană D.
Voloşciuc M.
Popescu R.
Braha E.
Pânzaru M.
Butnariu L.
Sireteanu A.
Covic M.
Gorduza E.V.
author_sort Caba L.
title Ring Autosomes: Some Unexpected Findings
title_short Ring Autosomes: Some Unexpected Findings
title_full Ring Autosomes: Some Unexpected Findings
title_fullStr Ring Autosomes: Some Unexpected Findings
title_full_unstemmed Ring Autosomes: Some Unexpected Findings
title_sort ring autosomes: some unexpected findings
publisher Sciendo
series Balkan Journal of Medical Genetics
issn 1311-0160
publishDate 2012-12-01
description Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various breakpoints and sometimes there is a dynamic mosaicism that is reflected in clinical features. Most of the ring chromosomes are de novo occurrences. Our study reflects the experience of three Romanian cytogenetic laboratories in the field of ring chromosomes. We present six cases with ring chromosomes involving chromosomes 5, 13, 18, and 21. All ring chromosomes were identified after birth in children with plurimalformative syndromes. The ring chromosome was present in mosaic form in three cases, and this feature reflects the ring’s instability. In case of ring chromosome 5, we report a possible association with oculo-auriculo-vertebral spectrum.
topic chromosomal instability
variable phenotype
mosaicism
rare disease
ring chromosome
url https://doi.org/10.2478/bjmg-2013-0005
work_keys_str_mv AT cabal ringautosomessomeunexpectedfindings
AT rusuc ringautosomessomeunexpectedfindings
AT plaiasuv ringautosomessomeunexpectedfindings
AT gugg ringautosomessomeunexpectedfindings
AT gramescum ringautosomessomeunexpectedfindings
AT bujoranc ringautosomessomeunexpectedfindings
AT ochianad ringautosomessomeunexpectedfindings
AT volosciucm ringautosomessomeunexpectedfindings
AT popescur ringautosomessomeunexpectedfindings
AT brahae ringautosomessomeunexpectedfindings
AT panzarum ringautosomessomeunexpectedfindings
AT butnariul ringautosomessomeunexpectedfindings
AT sireteanua ringautosomessomeunexpectedfindings
AT covicm ringautosomessomeunexpectedfindings
AT gorduzaev ringautosomessomeunexpectedfindings
_version_ 1717782753528774656

Similar Items