A Probable Pericentric Inversion of a G/G Translocation Chromosome in a Mentally Retarded Child with Mongoloid Traits

Orye, E; Coetsier, H; Hooft, C

doi:10.1159/000152231

Cited by 5 publications

(1 citation statement)

References 4 publications

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“…Some of them are complex G/G translocations or secondary rearrangements of them, such as a G/G tandem chromosome with satellites on both arms [Richards et al. 1965;Vogel et al, 1970;BartschSANDHOFFand Sc'Made, 1973], an atypical G/G translocation derived from a pericentric inversion chromosome [Moric-Petrovic et al, 1972], and a pericentric inversion of a G/G centric fusion [Soudek et al, 1968;Orye et al, 1969].…”

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confidence: 99%

A t(21q21q) Ring Chromosome

Orye¹,

Craen²

1974

Hum Hered

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A mosaic 46, XY,–G,+ t(GqGq)/46, XY, rG was found in a boy with Down’s syndrome. The G- and Q-banding techniques allowed to identify the abnormal chromosomes: 46, XY,–21,+t(21q21q)/46, XY,–21,+r[t(21q21q)]. Since the boy only had symptoms of Down’s syndrome and none of the ‘antimongolism’ or 2 deletion syndrome, it was concluded that the 21 ring chromosome was derived secondaril from the t(21q21q) centric fusion or 21q isochromosome.

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mentioning

confidence: 99%

A t(21q21q) Ring Chromosome

Orye¹,

Craen²

1974

Hum Hered

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Down's syndrome

Mikkelsen

1971

Hum Genet

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Pericentric inversions

Kaiser

1984

Hum Genet

135

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A review is given of the incidence, cytogenetics, and biologic relevance of pericentric inversions (pii). In 251 cases in the literature and our patients, 96 different inversion forms with different breakpoints are found. Eighteen of these cases have been observed several times in unrelated families; they are classified as types. The problem of pii in the heterochromatic regions of chromosomes 1 and 9 is especially emphasized and the investigations required are pointed out. The significance of the individual pii is checked with regard to their behavior in meiosis and their phenotypical relevance. An approximately 1:1 segregation is found. Fertility, stillbirth, and rates of abortion are not statistically altered. The gonadal findings available at present in man are reported and commented on. The occurrence of aneusomic recombinants among the live offspring of carriers shows a marked dependence on the length of the relative inversion segments. Since these are distinctly below average in inversion types, they only result in recombinants in exceptional cases. Certain pointers to an above-random common occurrence of other chromosomal aberrations are not found in families with pii. A correlation between pii and clinical symptoms likewise cannot be detected. However, in this connection it is pointed out that trisomic mosaics were observed jointly with pii(9) and pii(22). The review is completed by a brief examination of the literature concerning the significance of pii in evolution.

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A Probable Pericentric Inversion of a G/G Translocation Chromosome in a Mentally Retarded Child with Mongoloid Traits

Cited by 5 publications

References 4 publications

A t(21q21q) Ring Chromosome

A t(21q21q) Ring Chromosome

Down's syndrome

Pericentric inversions

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