Ring Autosomes: Some Unexpected Findings

Author:

Caba L.1,Rusu C.2,Plăiaşu V.3,Gug G.45,Grămescu M.1,Bujoran C.2,Ochiană D.3,Voloşciuc M.2,Popescu R.1,Braha E.12,Pânzaru M.12,Butnariu L.12,Sireteanu A.1,Covic M.1,Gorduza E.V.1

Affiliation:

1. 1“Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, Iasi, Romania

2. 2“Sf. Maria” Pediatric Hospital Iasi, Department of Medical Genetics, Iasi, Romania

3. 3“Prof. dr. Alfred Rusescu” Institute for Mother and Child Care Bucharest, Department of Medical Genetics, Bucharest, Romania

4. 4“Victor Babeş” University of Medicine and Pharmacy Timisoara, Department of Medical Genetics, Timisoara, Romania

5. 5“Dr. Cristina Gug” Cytogenetic Laboratory, Timisoara, Romania

Abstract

ABSTRACT 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.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

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