Phenotype associated with ring 10 chromosome: Report of patient and review of literature

Abstract

A 15-month-old infant's peripheral blood chromosome analysis showed the following defects: 46,XY,r(10)(p15.3q26.1) in 84 cells, 45,XY,-r(10) in 13 cells, and 47,XY,r(10),+r(10) in one cell. Clinical abnormalities included growth retardation, microcephaly, prominent nasal bridge, macular hypoplasia, persistent pulmonary hypertension, and posterior urethral valves with hydronephrosis. Comparison of the phenotype of five other patients with a ring chromosome 10 with the present case showed the following common manifestations: growth retardation, microcephaly, undescended testes, hydronephrosis, and, in males, posterior urethral valves. To date, this last anomaly has not been seen in patients with either a del(10p) or a del(10q) abnormality.

Deletion of the short arm of chromosome 10 (10p13): Report of a patient and review

“…The syndrome had been associated with the DiGeorge anomaly in several cases [Greenberg et al, 1986;1988;Hewe et al, 1984;Koenig et al, 1985;Monaco et al, 19911. Other circumstances in which deletion of the short arm of chromosome 10 have been previously reported included six reports of individuals with the deletion as one finding in a complicated set of other chromosomal abnormalities [Bridgman et al, 1980;Lai et al, 1992;Prieto et al, 1978;Sanchez et al, 1983;Slinde and Hansteen, 1982;T'urleau et al, 19791 and six cases of ring 10 chromosome [Lansky et al, 1977;Fryns et al, 1978;Michels et al, 1981;Simoni et al, 1979;Sparkes et al, 1978;Tsukino et al, 19801. We report on an additional case of partial deletion of lop, the 14th case of deletion in the area of p13.…”

Deletions of the long arm of chromosome 10

“…There have been few reports of deletions involving the long arm of chromosome 10, although 2 fragile sites (10q23, IOq25) have been identified [McKusick, 19831. The most commonly reported abnormality is a terminal deletion of the long and short arm with formation of a ring [Lansky et al, 1977;Sparkes et al, 1978;Simoni et al, 1979;Tsukino et al, 1980;Michels et al, 1981;Serville et al, 1982, Nakai et al, 1983Kondo et al, 19841. The next most commonly reported abnormality is a terminal deletion [Lewandowski et al, 1978;Turleau et al, 1979;Wegner et al, 1981;Mulcahy et al, 1982;Taysi et al, 1982;Zatterale et al, 1983;Evan-Jones et al, 1983;Chieri and Iolster, 19831, with interstitial deletions being the least common [Ray et al, 1980;van de Vooren et al, 19841.…”

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

“…Only 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.…”

“…Some common clinical features of patients with a ring 10 chromosome have been delineated: these include mental and developmental retardation, short stature, microcephaly, ocular anomaly such as strabismus or cataract, low set ears, stubby nose, malformed urinary tracts and cryptorchidism in males (Michels et al, 1981;Nakai et al, 1983;Kondo et aI., 1984). The present case shared some of the characteristic features, but his overall clinical picture was strikingly mild compared with the other reported patients.…”