Trisomy 21 or 22 in Down's Syndrome ?

Back, F.; Dormer, Peter G.; Baumann, Peter; Olbrich, Erhard

doi:10.1016/s0140-6736(67)92879-6

Cited by 13 publications

(2 citation statements)

References 10 publications

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“…Prior to the availability of chromosome banding techniques, attempts to delineate syndromes due to Ring G chromosome abnormalities were complicated by the inability to distinguish clearly r(21) and r(22) chromosomes (Hoefnagel et al 1967, Blank & Lorber 1969, Talvik & Mikelsaar 1969, Dubovitz et al 1971, Picciano et al 1972. Some authors have attempted to base this distinction on differential autoradiographic patterning (Hoefnagel et al 1967, Talvik & Mikelsaar 1969, but as pointed out by Back et al (1967), this is an unreliable technique for distinguishing the G-group chromosomes. Thus far, some 19 patients have been clearly identified as having an r(22) karyotype by one or more of the newer banding techniques; however, at this point there is no consensus as to whether or not there is a recognizable r(22) syndrome.…”

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Phenotypic correlations in patients with ring chromosome 22

et al. 1977

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This paper reports two patients with a ring 22 chromosome which has been confirmed by Q‐banding. The literature contains 19 patients with a ring G‐group chromosome which has been shown by chromosome banding to be a ring 22. The most commonly reported features in affected patients have included: retardation with disproportionate verbal delay, reduced head circumference, hypotonia, unsteady gait, large ears with abnormal configuration, and epicanthic folds. The importance of these, as well as other, less often noted findings, is discussed in relation to a possible r(22) syndrome.

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Phenotypic correlations in patients with ring chromosome 22

et al. 1977

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“…22s, were based on autoradiography. Back, Dormer, Baumann and Olrich (1967) showed that this method is unsatisfactory for the G group. In short, there were only seven cases where a more reliable method, viz, banding techniques, had been used to identify a ring chromosome 22.…”

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confidence: 99%