
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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REFERENCES
1. Kosztolányi G. The genetics and clinical characteristics
of constitutional ring chromosomes.
J Assoc Genet Technol. 2009; 35(2): 44-48.
2. Schinzel, A. Catalogue of Unbalanced Chromosome
Aberrations in Man. Berlin: de Gruyter, 1983.
3. Kosztolányi G, Méhes K, Hook EB. Inherited
ring chromosomes: an analysis of published
cases. Hum Genet. 1991; 87(3): 320-324.
4. Yardin C, Esclaire F, Terro F, Baclet MC, Barthe
D, Laroche C. First familial case of ring chromosome
18 and monosomy 18 mosaicism. Am
J Med Genet. 2001; 104(3): 257-259.
5. Kosztolányi G. Does ‘‘ring syndrome’’ exist? An
analysis of 207 case reports on patients with a ring
auto-some. Hum Genet. 1987; 75(2): 174-179.
6. Stankiewicz P, Brozek I, Hélias-Rodzewicz Z,
Wierzba J, Pilch J, Bocian E, et al.. Clinical and
molec-ular-cytogenetic studies in seven patients
with ring chromosome 18. Am J Med Genet.
2001; 101(3):226-239.
7. Battini R, Battaglia A, Bertini V, Cioni G, Parrini
B, Rapalini E, et al. Characterization of the
phenotype and definition of the deletion in a new
patient with ring chromosome 22. Am J Med
Genet A. 2004; 130A(2): 196-199.
8. Glass IA, Rauen KA, Chen E, Parkes J, Alberston
DG, Pinkel D, et al. Ring chromosome 15:
characterization by array CGH. Hum Genet.
2006; 118(5): 611-617.
9. Rossi E, Riegel M, Messa J, Gimelli S, Maraschio
P, Ciccone R, et al. Duplications in addition
to terminal deletions are present in a
proportion of ring chromosomes: clues to the
mechanisms of formation. J Med Genet. 2008;
45(3):147-154.
10. Knijnenburg J, van Haeringen A, Hansson
KB, Lankester A, Smit MJ, Belfroid RD, et al.
Ring chromosome formation as a novel escape
mechanism in patients with inverted duplication
and terminal deletion. Eur J Hum Genet. 2007;
15(5): 548-555.
11. Gardner RGM, Sutherland GR. Chromosome
Abnormalities and Genetic Counseling, 3rd ed.
New York: Oxford University Press; 2004.
12. Kellermayer R, Gyarmati J, Czakó M, Tészás A,
Masszi G, Ertl T, et al. Mos 46,XX,r(18).ishr(18)
(18ptel-, 18qtel-)/46,XX.ish del(18)(18ptel-): an
example for successive ring chromosome formation.
Am J Med Genet A. 2005; 139A(3): 234-235.
13. Sodré CP, Guilherme RS, Meloni VF, Brunoni D,
Juliano Y, Andrade JA, et al. Ring chromosome
instability evaluation in six patients with autosomal
rings. Genet Mol Res. 2010; 9(1): 134-143.
14. Tümer Z, Harboe TL, Blennow E, Kalscheuer
VM, Tommerup N, Brøndum-Nielsen K. Molecular
cytogenetic characterization of ring chromosome
15 in three unrelated patients. Am J
Med Genet A. 2004; 130A(4): 340-344.
15. Purandare SM, Lee J, Hassed S, Steele MI,
Blackett PR, Mulvihill JJ, et al. Ring chromosome
9 [r(9) (p24q34)]: a report of two cases.
Am J Med Genet A. 2005; 138A(3): 229-235.
16. Hockner M, Utermann B, Erdel M, Fauth C,
Uter-mann G, Kotzot D. Molecular characterization
of a de novo ring chromosome 6 in a growth
retarded but otherwise healthy woman. Am J
Med Genet A. 2008; 146A(7): 925-929.
17. Zollino M, Seminara L, Orteschi D, Gobbi G,
Giovannini S, Della Giustina E, et al. The ring 14 syndrome: clinical and molecular definition.
Am J Med Genet A. 2009; 149A(6): 1116-1124.
18. Speevak MD, Smart C, Unwin L, Bell M, Farrell
SA. Molecular characterization of an inherited
ring (19) demonstrating ring opening. Am J Med
Genet A. 2003; 121A(2): 141-145.
19. Pezzolo A, Gimelli G, Cohen A, Lavaggetto A,
Romano C, Fogu G, et al. Presence of telomeric
and sub-telomeric sequences at the fusion points
of ring chromosomes indicates that the ring syndrome
is caused by ring instability. Hum Genet.
1993; 92(1): 23-27.
20. Koç A, Karaer K, Ergün MA. A case with a ring
chromosome 22. Turk J Pediatr. 2008; 50(2):
193-196.
21. Rivera H, Dominguez MG. Variegated aneuploidy
and ring chromosome syndromes overlap.
Am J Med Genet A. 2010; 152A(1): 228-229.
22. Shaffer LG, Slovak ML, Campbell LJ. International
System of Human Cytogenetic Nomenclature:
recommendations of the International
Standing Committee on Human Cytogenetic
Nomenclature. Basel: Karger AG, 2009.
23. Miller K, Pabst B, Ritter H, Nürnberg P, Siebert
R, Schmidtke J, et al. Chromosome 18 replaced
by two ring chromosomes of chromosome 18
origin. Hum Genet. 2003; 112(4): 343-347.
24. Schlegel Z, Valent A, Hirsch A. Partial mosaic
trisomy 5: a new case report with ocular involvement.
J Fr Ophtalmol. 2009; 32(8): 533-539.
25. Gorlin RJ, Cohen MM Jr, Hennekam R. Branchial
arch and oral-acral disorders. Syndromes of
the Head and Neck, 4th ed. New York: Oxford
University Press. 2001: 790-798.
26. Tasse C, Majewski F, Böhringer S, Fischer S,
Lüdecke HJ, Gillessen-Kaesbach G, et al. A
family with autosomal dominant oculo-auriculo-
vertebral spectrum. Clin Dysmorphol. 2007;
16(1): 1-7.
27. Choong YF, Watts P, Little E, Beck L. Goldenhar
and cri-du-chat syndromes: a contiguous gene deletion
syndrome? J AAPOS. 2003; 7(3): 226-227.
28. Dyggve H, Mikkelsen M. Partial deletion of
the short arms of chormosome of the 4-5 group
(Denver). Arch Dis Child. 1965; 40(209): 82-85.
29. Ladekarl S. Combination of Goldenhar syndrome
with cri-dre-chat syndrome. Acta Ophthalmol
(Copenh). 1968; 46(3): 605-610.
30. Neu KW, Friedman JM, Howard-Peebles PN.
Hemifacial microsomia in cri du chat (5p-) syndrome.
J Craniofac Genet Dev Biol. 1982; 2(4):
295-298.
31. Digilio MC, Calzolari F, Capolino R, Toscano
A, Sarkozy A, de Zorzi A, et al. Congenital heart
defects in patients with oculo-auriculo-vertebral
spectrum (Goldenhar syndrome). Am J Med
Genet A. 2008; 146 (14): 1815-1819.
32. Basinko A, Giovannucci Uzielli ML, Scarselli G,
Priolo M, Timpani G, et al. Clinical and molecular
cyto-genetic studies in ring chromosome 5:
Report of a child with congenital abnormalities.
Eur J Med Genet. 2012; 55(2): 112-116.
33. Lorentz CP, Jalal SM, Thompson DM, Babovic-
Vuksanovic D. Mosaic r(13) resulting in large
deletion of chromosome 13q in a newborn female
with multiple congenital anomalies, Am J
Med Genet. 2002; 111(1): 61-67.
34. Gorduza E.V, Bujoran C, Pădurariu L, Grămescu
M, Ivanov I, Martiniuc V, et al. Presentation of
a new case with a mosaic ring chromosome 13:
46,XY,r(13)(p11.2-q34)/45,XY,-13 and a review
of literature. RJRD. 2010; 1(1): 17-23.
35. Hoo JJ, Stein CK. “Zwilling” versus “Tai Chi”
configuration of double-sized ring chromosome.
Am J Med Genet A. 2007; 143(8): 903-905.
36. Liehr T. 2012. Small supernumerary marker
chromosomes. http://www.fish.uniklinikumjena.
de/sSMC. html. [accessed 16 July 2012].
37. Lo-Castro A, El-Malhany N, Galasso C, Verrotti
A, Nardone AM, Postorivo D, et al. De novo mosaic
ring chromosome 18 in a child with mental
retardation, epilepsy and immunological problems.
Eur J Med Genet. 2011; 54(3): 329-332.
38. Feenstra I, Vissers LELM, Orsel M, van Kessel
AG, Brunner HG, Veltman JA, et al. Genotypephenotype
mapping of chromosome 18q deletions
by high-resolution array CGH: an update of
the phenotypic map. Am J Med Genet A. 2007;
143A(16): 1858-1867.
39. McGinniss MJ, Kazazian HH, Stetten G, Petersen
MB, Boman H, Engel E, et al. Mechanisms
of ring chromosome formation in 11 cases of
human chromosome 21. Am J Hum Genet. 1992;
50(1): 15-28.
40. de Grouchy J, Turleau C. Syndrome r(21). Clinical
Atlas of Human Chromosomes. New York:
John Wiley and Sons. 1984: 350-355.
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