Abstract
Pericentric inversions in chromosome 10 are regarded as both common and rare conditions, based on breakage and rearrangement within each specific segment. We present phenotypic and cytogenetic characterizations of a rare recombinant chromosome 10, namely inv(10)(p11q26), in a 13-month-old flabby girl associated with a maternal pericentric inversion. A review of the literature on the different aspects of this condition is also provided.
Highlights
Inversions as a subclass of chromosome mutations constitute structural chromosome anomalies with arrangements in normal genetic material
1 On the basis of a study on 33 families, Collinson et al 4 revealed that a small pericentric inversion in chromosome 10, namely inv(10) (p11.2q21.2), is a common chromosomal variant rather than an aberration
The present report describes a patient with a pericentric inversion in chromosome 10 with hypotonia and convulsion, in association with a maternal pericentric inversion
Summary
Inversions as a subclass of chromosome mutations constitute structural chromosome anomalies with arrangements in normal genetic material. History and karyotype analysis demonstrated that a phenotypically normal maternal uncle was a carrier for this chromosomal anomaly. She had twin maternal aunts with a phenotype similar to hers who had died at 6 months and 19 years old, respectively, without genetic study. Chromosome analysis revealed that all the cells had a pericentric inversion in 46,XX,inv(10) (p11q26) in Giemsa-banding. This finding was rechecked in C-banding, which resulted in the extension from the pericentromeric region to almost the near telomere in the short arm of chromosome 10 (Fig. 2 and 3). Hum Genet 1981 ; 5T7ab:7le1-17.4D.etails of 59 cases of pericentric inversions in chromosome 10
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