https://www.le.ac.uk/ge/maj4/SurnamesForWeb.pdf

In the name of the father: surnames and genetics

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.

Pericentric inversions. Problems and significance for clinical genetics.

Since 1985, when a bibliography concerning studies on surnames and genetic structure appeared, the number of publications on this subject has increased a thousandfold. New topics and uses have been added, but large gaps in knowledge remain. Only studies on isonymy in cities of nation states for recent times are well covered, and most studies are on populations that were selected because they are isolated and not because they are typical. This review, although not exhaustive, covers the literature published since 1985.

https://www.jstor.org/stable/pdfplus/41466196.pdf

Use of surname models in human population biology: a review of recent developments.

The Leuven cytogenetic centre experience on pericentric inversion in man is discussed with exclusion of the pericentric inversions of the heterochromatic blocks of chromosomes 1 and 9. In a total of 51,500 patients, referred for constitutional chromosome analysis during the period 1970–1985, pericentric inversions were found in 24 index patients. The breakpoints detected in these different pericentric inversions are summarized and compared to those found in previous reports. Bands 2p13, 2q21, 5q31, 6c21, 10q22, and 12q13 were shown to be repeatedly involved in the different studies and, furthermore, breakpoints at bands 2q11, 5p13, 5p15, 5q13, 7q11, 11q25, and 14p11 were present in this study as well as in our previous review on reciprocal autosomal translocations. In 13 familial pericentric inversions, even after exclusion of all inversion carrier probands, a 1.6:1 excess of pericentric inversion carriers versus karyotypically normal progeny was observed. While chromosomally unbalanced offspring represent 3.5% of all chromosomally investigated liveborns of the present study, 7.1% of all liveborn inversion carrier offspring presented with a mental retardation and/or multiple congenital anomalies (MR/MCA) problem. Additional chromosomal abnormalities, i.e. a 21 trisomy and an accessory small ring chromosome were observed in two pericentric inversion carriers. These data and results are discussed and compared to the data available in the literature.

Pericentric inversions in man: personal experience and review of the literature

Background: The largest cytogenetic survey involving infertile men was undertaken to clarify whether chromosomal abnormalities, including autosomal abnormalities, affect semen qualities.



Method: All male patients who visited an infertility clinic from 1990 to 1998 underwent chromosomal and semen analysis.



Results: Chromosomal abnormalities were found in 225 of 1790 patients (12.6%). The most frequent anomaly was Klinefelter syndrome (64 cases). Autosomal anomalies accounted for 126 cases. 46,XY,1qh(+) was the most common autosomal anomaly (30 cases) and its incidence was significantly higher than those of normal controls. The seminograms of these patients varied widely, with nine patients having azoospermia and three patients achieving natural pregnancies. It is not yet clear if this karyotype affects spermatogenesis.



Conclusion: Autosomal anomalies as well as sex chromosomal abnormalities might affect spermatogenesis. Cytogenetic study is important before intracytoplasmic sperm injection.

Chromosomal variants among 1790 infertile men.

A pericentric inversion of chromosome 1 was found in three phenotypically normal brothers. The proband consulted for azoospermia. Also, one of his brothers is azoospermic and another one is severely oligozoospermic. G-banding studies indicate that the breakpoints of the inversion are at p13,q25.

Pericentric inversion of chromosome 1 in three sterile brothers.

A large pedigree with a satellited Yq chromosome is described, Q, C, and NOR banding were performed. Family C proband suffers from a Klinefelter syndrome.

A family with a satellited Yq chromosome.

De 38 pacientes con sindrome de Turner, 20 presentaron el cariotipo clasico 45,X0 y una el mosaico 45,X0/46,XX. Las otras 17 pacientes mostraron diferentes anomalias estructurales: diez tenian una o dos lineas con isocromosomas de brazos largos, ocho de ellas con mosaicismo 45,X0; una paciente presento 46,X, deI (Xp) o 46,X,tel (Xq) por tratarse de una falta total de brazos cortos; tres mostraron diferentes porcentajes de lineas monosomicas y anillos X: 45,X0/46,X.dXI; dos pacientes tenian anomalias estructurales d el cromosoma Y: 45,X/46, XY nf y 45.X0/46.X.idic (Yq) y una paciente mostro 45,X0/46,X.f (X). Estas pacientes fueron remitidas para evaluacion clinica y citogenetica al Grupo de Gen6tica del Instituto Nacional de Salud de Colombia, de 1977 a 1983. Se discuten algunas observaciones sobre el posible origen de las anomalias cromosomicas, la edad de los padres, las edades y motivos de consulta de las pacientes y los hallazgos clinicos

/pdf/estudio-citogenetico-de-38-pacientes-con-sindrome-de-turner-19ikz4ev0g.pdf

Inés Martínez

Papers

Pericentric inversion of chromosome 1 in three sterile brothers.

A family with a satellited Yq chromosome.

Estudio citogenético de 38 pacientes con síndrome de turner