RING AUTOSOMES: SOME UNEXPECTED FINDINGS
Caba L1,*, Rusu C1,2, Plăiaşu V3, Gug G4,5, Grămescu M1, Bujoran C2,
Ochiană D3, Voloşciuc M2, Popescu R1, Braha E1,2, Pânzaru M1,2,
Butnariu L1,2, Sireteanu A1, Covic M1, Gorduza EV1
*Corresponding Author: Dr. Lavinia Caba, “Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department
of Medical Genetics, 16 Universitatii str., Iasi, 700115, Romania; Tel.: +40724962671; Email: lavinia_zanet@yahoo.com
page: 35
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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.
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