Although clinical features in Turner syndrome have been well defined, underlying genetic factors have not been clarified. To deduce the factors leading to the development of clinical features, we took the following four steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of factors that could lead to Turner features; and (4) correlation of the clinical features with the effects of specific factors. The results indicate that the clinical features in 45,X and in other female sex chromosome aberrations may primarily be determined by: (1) degree of global non-specific developmental defects caused by quantitative alteration of a euchromatic or noninactivated region; (2) dosage effect of a pseudoautosomal growth gene(s), a Y-specific growth gene(s), and an Xp-Yp homologous lymphogenic gene(s); and (3) degree of chromosome pairing failure in meiocytes that are destined to develop as oocytes in the absence of SRY.

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

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.

A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin--the first such instance to be recorded.

Complex chromosome rearrangements. Report of a new case and literature review

Familial hypomagnesemia with secondary hypocalcemia (HSH) (MIM 307600) was studied in three inbred Bedouin kindreds from Israel. The three kindreds, one extended and two nuclear families, contained 13 affected individuals, 11 males and two females. Assuming that the individuals affected with hypomagnesemia shared a chromosomal region inherited from a common ancestor, we used a DNA pooling strategy in a genome-wide search for loci which show homozygosity for shared alleles in affected individuals. DNA samples from affected individuals within a single kindred were pooled and used as the template for PCR amplification of short tandem repeat polymorphic markers (STRPs). Pooled DNA from unaffected siblings and parents were used as controls. A shift towards homozygosity was observed in the affected DNA pool compared with the control pools with D9S301 (GATA7D12). Genotyping of individual DNA samples with D9S301 and several flanking markers confirmed linkage to chromosome 9 with maximum LOD scores of 3.4 (theta = 0.05), 3.7 (theta = 0) and 2.3 (theta = 0) for the three families. We have identified a 14 cM interval on chromosome 9 (9q12-9q22.2), flanked by proximal marker D9S1874 and distal marker D9S1807, within which all affected individuals from the three kindreds are homozygous for a shared haplotype. The disease segregates with a common affected haplotype in the three families, suggesting that hypomagnesemia is caused by a common ancestral mutation in these families. Although HSH has been previously reported to be X linked, these linkage data demonstrate that the disorder is an autosomal recessive disease in these kindreds. Mapping of a chromosomal breakpoint in a somatic cell line established from a patient with HSH and a balanced X;9 translocation placed the chromosomal breakpoint in a 500 kb region flanked by D9S1844 and D9S273. Identification of the gene responsible for hypomagnesemia will provide insight into the regulation of this essential cation.

/pdf/familial-hypomagnesemia-maps-to-chromosome-9q-not-to-the-x-2llfk3u2fm.pdf

Familial Hypomagnesemia Maps to Chromosome 9q, not to the X Chromosome: Genetic Linkage Mapping and Analysis of a Balanced Translocation Breakpoint

The observation of five special cases of structural anomalies involving the X chromosomes led us to study the inactivation center. These data, combined with those from the literature, suggest that the X chromosome possesses only one inactivation center. Results of this study allowed a more precise localization of this inactivation center.

Structural anomalies of the X chromosome and inactivation center

The authors discuss the clinical and cytogenetic problems raised in two new cases of X-chromosome translocations.

A dynamic study in two new cases of X chromosome translocations

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A dynamic study in two new cases of X chromosome translocations