Report of a patient with a ring chromosome 10: mos45,XY,−10/46,XY/46,XY,r(10) (p15.3q26.3)

Abstract

SummaryA 2.5-year-old boy with a ring chromosome 10 was described. Clinical features included developmental retardation, short stature, mild mental retardation and cryptorchidism. He had a history of photohypersensitivity. By using PHA stimulated peripheral blood lymphocytes, Epstein-Barr virus transformed lymphoblastoid cell line and cultured skin fibroblasts, his karyotype was identified to be mos45,XY,-10/46,XY/ 46,XY,r(10) (pl 5.3q26.3). INTRODUCTIONOnly nine patients with a ring chromosome 10 have so far been reported (Lansky et al., 1977;Fryns et al., 1978;Sparkes et al., 1978;Simoni et al., 1979;Tsukino et al., 1980;Michels et al., 1981, Serville et al., 1982Nakai et al., 1983;Kondo et al., 1984). In this report, we present a patient with a mosaic karyotype of 45,XY, -10/46,XY/46,XY,r(10) (pl 5.3@6.3) who showed relatively mild phenotypic anomalies. The ring chromosome was analyzed in more detail by high-resolution banding. CASE REPORTThe proband was the first child of non-consanguineous parents. He was born after an uncomplicated pregnancy of 39 weeks and a normal delivery. There was

Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature

“…Only papers published in English were reviewed. Nineteen previously published cases were identified in the literature [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17].…”

“…It is currently reported in 19 unrelated patients in the medical literature, but most patients were described before the introduction of chromosomal microarray technology, and the precise definition of deleted regions and encompassed genes is lacking. Typical clinical features include intellectual disability and/or developmental delay (ID/DD), microcephaly, short stature, facial dysmorphisms, ophthalmologic abnormalities and genitourinary malformations [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17]. In constitutional ring chromosomes, the regions involved by the breakage, the amount of lost information, and the level of mosaicism resulting from the unstable nature of the ring upon cell division may vary each time, causing patients with a seemingly analogous ring chromosome to display diverse clinical pictures [18].…”

Ring Chromosome 10 in a Filipino Child: A Case Report and Review of Literature

“…There have been 11 cases reported in the literature. [2][3][4][5][6][7][8][9][10][11][12] Affected patients present with common clinical features which include growth retardation, microcephaly, facial dysmorphism, congenital malformations and learning disability. 12 However, no cases are exactly alike.…”