Pericentric Inversions. Problems and Significance for Clinical Genetics

Overview

Journal Hum Genet

Specialty Genetics

Date 1984 Jan 1

PMID 6389316

Citations 49

Authors

P Kaiser

Affiliations

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Abstract

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.

Citing Articles

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Chromoanagenesis Event Underlies a Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome.

Grochowski C, Krepischi A, Eisfeldt J, Du H, Bertola D, Oliveira D Front Genet. 2021; 12:708348.

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Cytogenetically visible inversions are formed by multiple molecular mechanisms.

Pettersson M, Grochowski C, Wincent J, Eisfeldt J, Breman A, Cheung S Hum Mutat. 2020; 41(11):1979-1998.

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Clinical outcomes of Preimplantation genetic testing (PGT) application in couples with chromosomal inversion, a study in the Chinese Han population.

Shao Y, Li J, Lu J, Li H, Zhu Y, Jiang W Reprod Biol Endocrinol. 2020; 18(1):79.

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Stamou M, Ng S, Brand H, Wang H, Plummer L, Best L J Clin Endocrinol Metab. 2019; 105(3).

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