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PubMed1997

[Disorders of sex chromosome].

Disorders of sex chromosome, X and Y, consist of abnormality of the number or structure of the sex chromosome. Because sex chromosomes have a variety of genes related to sexual differentiation, disorders of sex chromosome induce a variety of disorders of sexual differentiation. At first, in this title, the process of normal sexual differentiation is shown. Classical disorders of sex chromosome are Klinefelter syndrome, XX male, XYY male, Turner syndrome, XXX female, and XY female. True hermphroiditism, mixed gonadal dysgenesis, and pure gonadal dysgenesis are also included, because most of these disorders have abnormal sex chromosome. Molecular analysis of sex chromosome is clarifying disorders with a minute abnormality of sex chromosome. They include male infertility, premature ovarian failure, and fragile X syndrome. Explanations of the above disorders are given briefly.

Female↗
PubMed1985

The frequency and economic burden of genetic disease in a pediatric hospital in Mexico City.

A survey of 2,945 admissions to the National Institute of Pediatrics, México, was undertaken to document the frequency and burden of genetic disorders. Patients were classified into five categories: single gene disorders; chromosomal disorders; complex genetic etiology; unknown etiology, and nongenetic disorders. Of all admissions studied, 4.3% had a genetic disease (categories 1 and 2); 33.5% had a partly genetic condition (category 3); 13.8% had a disorder of unknown etiology; and 48.4% had an environmental disease. In terms of economic burden, patients with genetic or partly genetic disorders came more frequently from outside the city and had more and longer admissions with a higher number of surgeries. The results suggest that genetic disease, although less frequent than disease caused by environmental conditions, lays a considerable financial burden on the hospital and on the affected families. The need to create genetic units in developing countries is emphasized.

Child, Preschool↗
PubMedDate not supplied

[Interphase FISH test as a rapid test for trisomies in amniotic fluid--results of a prospective study].

BACKGROUND: Specific DNA probes allow rapid prenatal diagnosis of numerical chromosome disorders (chromosomes 13, 18, 21, X, Y) by FISH on interphase nuclei. The diagnostic reliability is presently under evaluation. STUDY GROUP: In a period of 1.5 years a total 1126 amniotic fluid samples was investigated by FISH compared to standard cytogenetic analysis. RESULTS: The success rate was 93 percent (< or = 30 nuclei) and 84% (< or = 50 nuclei). An abnormal karyotype was detected by FISH in 27 of 28 successfully hybridised samples, including trisomy 21 [16], trisomy 13 [4], trisomy 18 [4], aberrations of sex chromosomes [4]. Two cases with clinically relevant cytogenetic abnormalities were in principle not detectable by FISH. One false-negative finding was observed, possibly arising from maternal cell contamination of the sample. 6% of all samples, respectively 23% of the bloody samples were contaminated by maternal cells (more than 10%). CONCLUSION: Maternal contamination represents the most important limitation of the diagnostic reliability in routine practice.

Amniocentesis↗
PubMed1994

Chromosomal aberrations and bipolar affective disorder.

Chromosomal abnormalities associated with bipolar disorder may help in the localisation of susceptibility genes for bipolar illness by pinpointing 'candidate' regions of the genome for further study using molecular genetic methods. We review descriptions of chromosomal abnormalities in association with bipolar and related affective disorders and evaluate their relevance for localising susceptibility genes for bipolar disorder, using standardised criteria. We found 28 reports. We identified four genomic regions of potential interest: 11q21-25; 15q11-13; chromosome 21;Xq28. It is important that clinicians are able to recognise patients who may have chromosome abnormalities which could help in the localisation of susceptibility genes for psychiatric disorders. We suggest referral for specialist investigation and karyotyping, to a psychiatric genetics research group, of any patient with functional psychosis and one or more of the following: (a) a strong family history of functional psychosis; (b) mental retardation; (c) another disease known to be caused by a single gene; or (d) congenital abnormalities.

Bipolar Disorder↗
PubMedDate not supplied

High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q.

A detailed analysis of the constitutional chromosomal changes in two pediatric patients was performed using high resolution genetic analysis techniques, microarray comparative genomic hybridization (array CGH) and multiplex ligation-dependent probe amplification (MLPA) as well as FISH. The aim was to come to a more precise characterization of the genotype/phenotype relationship. Case 1 was a girl of 25 months, showing areas of hypopigmentation along the lines of Blaschko and no other developmental abnormality. She carried a ring chromosome 19 which we found not to have resulted in loss of subtelomeric sequences, ruling out the possibility that a small subtelomeric loss was causally related to this patient's phenotype. Case 2 was a 9-year-old girl with facial anomalies and mild growth and mental retardation carrying an unidentified addition on chromosome 2p. We found that the addition was duplicated 2q35-q37.3 and that the addition was not accompanied by loss of 2pter or any other chromosomal region. Together with literature data, we hypothesize that pediatric patients with 'pure' trisomy 2q including bands 2q35-q37.1 may have a moderate clinical phenotype as opposed to patients with duplications proximal to 2q33 or patients with duplications 2q3 with accompanying distal deletion. These two examples illustrate the additional value of new, high resolution genetic analysis techniques for a better characterization of the genotype/phenotype relationship in childhood chromosomal disorders.

Child↗
PubMed1999

Review of the spectrum of genetic diseases in Bahrain.

This paper looks at some of the studies on genetic disorders conducted in Bahrain. The disorders covered include: genetic blood disorders, metabolic disorders, chromosomal disorders, including Down syndrome, and cystic fibrosis. The rate of consanguinity in Bahrain and the results of premarital counselling are also discussed.

Bahrain↗
PubMed1983

Cytogenetic findings in 311 couples with infertility and reproductive disorders.

Chromosome studies in married couples were performed in order to elucidate their infertility, spontaneous abortions and foetal wastage. Peripheral blood lymphocyte metaphases of 311 persons revealed chromosomal abnormalities in 26 married people. Chromosome aberrations found here were distributed among sex chromosome aneuploidy (complete and mosaic form), structural anomalies of the Y chromosome, autosomal chromosome aneuploidy (mosaic form), and balanced autosomal translocations (complete and mosaic forms). Chromosomal structural variants were observed in chromosome A-1 (1qh +) in one person and in acrocentric chromosomes in 21 persons. They consisted mainly in elongated secondary constriction (NOR) and in large or very large satellites. The acrocentric association frequencies per metaphase were strongly increased in a group of probands carrying acrocentric variants. Their significance awaits further study.

Abortion, Spontaneous↗
PubMed2001

Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder.

Chromosome 22 has been implicated in schizophrenia and bipolar disorder in a number of linkage, association and cytogenetic studies. Recent evidence has also implicated CAG repeat tract expansion in these diseases. In order to explore the involvement of CAG repeats on chromosome 22 in these diseases, we have created an integrated map of all CAG repeats > or =5 on this chromosome together with microsatellite markers associated with these diseases using the recently completed nucleotide sequence of chromosome 22. Of the 52 CAG repeat loci identified in this manner, four of the longest repeat stretches in regions previously implicated by linkage analyses were chosen for further study. Three of the four repeat containing loci, were found in the coding region with the CAG repeats coding for glutamine and were expressed in the brain. All the loci studied showed varying degrees of polymorphism with one of the loci exhibiting two alleles of 7 and 8 CAG repeats. The 8-repeat allele at this locus was significantly overrepresented in both schizophrenia and bipolar patient groups when compared to ethnically matched controls, while alleles at the other three loci did not show any such difference. The repeat lies within a gene which shows homology to an androgen receptor related apoptosis protein in rat. We have also identified other candidate genes in the vicinity of this locus. Our results suggest that the repeats within this gene or other genes in the vicinity of this locus are likely to be implicated in bipolar disorder and schizophrenia.

Adult↗
PubMed1976

Chromosomal breakage in systemic sclerosis and related disorders.

Chromosome aberrations such as gaps and breaks of one or both chromatids, acentric fragments, dicentrics, ring chromosomes and other abnormal chromosomes are observed in lymphocyte and fibroblast cultures as well as in direct bone marrow preparations from patients with systemic sclerosis. A serum factor producing chromosome breaks in mitoses from healthy donors was observed in 37 of 42 scleroderma patients. The biochemical nature of this breakage factor is still undefined. Increased breakage is also noted in a high percentage of healthy family members of scleroderma patients. It is also a common feature of related disorders such as lupus erythematosus, dermatomyositis, periarteritis nodosa and rheumatoid arthritis. An increase in chromosome breaks and rearrangements is also present in NZB mice developing spontaneously an autoimmune disorder that has been extensively studied by workers interested in lupus erythematosus. The similarity of the cytogenetic findings provides the opportunity to use these mice as an experimental model to investigate relationships between immunological perturbations and chromosomal aberrations.

Animals↗
PubMed2002

Analysis of sex chromosomes in preimplantation genetic diagnosis for X-chromosome-linked disorders.

Preimplantation genetic diagnosis (PGD) is diagnostic tool to avoid inheritance of genetic disease by transferring unaffected embryos. Recently, PCR and FISH have been mainly applied to the diagnosis of single gene disorders and chromosomal abnormalities, respectively. Since with PGD, only a few cells are available for genetic tests, both gene and chromosomes analysis have to be obtained from the same, limited material. Cell recycling makes it possible to obtain the information on genes as well as chromosomes from the same cells. Therefore cell recycling is an acceptable strategy where in PGD targets large proportions of embryos severe chromosomal abnormalities. The responsible genes of the X-linked disorder and numerical abnormalities of sex chromosomes should be analyzed simultaneously. Gender information is definitely useful because only male affected embryos should be avoided for transfer.

Chromosomes, Human, X↗
PubMed1982

Organ site specificity for cancer in chromosomal instability disorders.

DNA rearrangement rather than point mutation is an emerging hypothesis for human carcinogenesis. Although there is no direct evidence for this hypothesis, indirect evidence is provided by cancer cytogenetics and genetics. It has been suggested that patients with Bloom's syndrome, a disorder of spontaneous chromosomal rearrangement, develop the common fatal internal cancers and thus that genetic rearrangements, rather than chemical mutagens, cause most internal human cancers. To test this observation, we have derived age- and sex-adjusted cancer incidence rate ratios for specific organ sites in patients with three chromosomal instability disorders (Bloom's syndrome, xeroderma pigmentosum, and dyskeratosis congenita) and have found that the increased incidence of cancer in all three disorders is limited to specific and often uncommon organ sites. We conclude that chromosomal instability disorders do not predispose patients to the common fatal internal cancers. Although DNA rearrangement remains a promising concept in human carcinogenesis, the organ site specificity of cancers associated with Bloom's syndrome, xeroderma pigmentosum, and dyskeratosis congenita cannot be used as evidence to implicate this mechanism.

Bloom Syndrome↗
PubMed2000

Genetic studies in autistic disorder and chromosome 15.

Autistic disorder (AD) is a developmental disorder affecting social interactions, communication, and behavior. AD is a disease of complex genetic architecture. It is postulated that several genes contribute to the underlying etiology of AD. Chromosome 15 is of particular interest due to numerous reports of AD in the presence of chromosomal abnormalities, located mainly in the 15q11-q13 region. There are also a number of plausible candidate genes in this area, including the gamma-aminobutyric acidA (GABA(A)) receptor gene complex. We have undertaken a study of this region of chromosome 15 in a data set of 63 multiplex families (with 2 or more AD affected individuals per family). We found evidence in support of linkage to the 15q11-q13 region, as well as evidence of increased recombination in this region. These findings provide further support for the involvement of chromosome 15q11-q13 in the genetic etiology of AD.

Autistic Disorder↗