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At least 19 recordsLinked to original sources
PubMed2004

White matter alterations associated with chromosomal disorders.

White matter alterations in chromosomal disorders have been reported mainly in 18q-syndrome. Our aim was to evaluate white matter alterations in patients with chromosomal abnormalities detected through conventional cytogenetic techniques. Forty-four patients with chromosomal abnormalities, excluding trisomy 21, were diagnosed in our hospital between May 1999 and December 2002 (24 males, 20 females; mean age 6 years 4 months [SD 3 years 2 months], range 0 to 18 years). Of the 44 patients, 14 had brain magnetic resonance imaging (12 males, 2 females; mean age 4 years 2 months [SD 4 years 4 months]; five with sex chromosomal disorders [SCD] and nine with autosomal chromosomal disorders [ACD]). Of these 14 patients, eight (four with SCD and four with ACD) had abnormal white matter findings of similar patterns. These patients had pseudonodular, subcortical, and periventricular white matter high signal intensity images in T2, and fluid-attenuated inversion recovery sequences that were isolated or confluent. The images did not correlate with the neurological clinical state. Given that eight of the 14 patients showed these lesions, their prevalence in different chromosomal abnormalities appears to be high, even though they have not been well reported in the literature. To our knowledge, these alterations have never been described in SCD. We concluded that unknown factors related to the myelination processes may be localized in different chromosomes.

Abnormalities, Multiple↗
PubMed1991

[Biopsy of the chorionic villi with the aid of ultrasound in the diagnosis of chromosome disorders in the 1st trimester].

Chorion frondosum biopsy is a method of antenatal diagnosis based on the chorion villi cell analysis, with the aim of detecting hereditary disorders of chromosomal and genetic origin. The method was applied at the Department of Gynaecology and Obstetrics in women with undesired pregnancy from 8 to 12 weeks. This was the first phase of our investigation. Chorion frondosum samples were taken by Jackson's forceps and "Portex" cannula for transcervical aspiration. The role of ultrasound, as a component part of this method, is pointed out in the paper. Ultrasound was applied in a way not to damage the embryo and its membranes, and to locate chorion frondosum--the site of taking the appropriate chorionic villi. The success of detection of foetal chromosomal constitution in our study was 84%. Chromosomopathy was registered in on case. The foetus had tetraploidy--92, XXYY.

Chorionic Villi Sampling↗
PubMed2003

Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

Chromosome Disorders↗
PubMed1982

Fetal manifestation of a chromosomal disorder: partial duplication of the long arm of chromosome 5 (5q33 to qter).

Two live-born children and one fetus were found to be affected by autosomal imbalance consisting of a partial duplication of the long arm of chromosome 5 (5q33 to qter) and partial deficiency of the short arm of chromosome 8 (8p23 to pter), resulting from segregation of a paternal translocation heterozygote t(5;8) (q33;p23). The phenotype of the children was rather similar to that of the fetus. The main features included craniofacial dysmorphia consisting of downward slant of eyelids and corners of the mouth, flat and widened nasal bridge, prominent philtrum, and small mandible. Ventricle and atrium septum defects were associated with overriding aorta and right heart hypertrophy in all three. Statomotoric retardation was evident postnatally in the two children. This observation indicates that structural autosomal imbalance may produce a fetal phenotype that is specific for the karyotype and comparable to that seen in the newborn.

Chromosome Aberrations↗
PubMed1990

Prenatal diagnosis of chromosomal disorders in Delhi.

Prenatal diagnosis of chromosomal disorders was carried out in 144 samples of amniotic fluid during 1986-1989. The commonest indication was pregnancy in women having a previous child with Down syndrome. Cultures were successful in 104 (72.2%) of 144 cases. Three (2.9%) abnormal karyotypes were detected. Of 53 women who had a previous child with Down syndrome, recurrence of trisomy 21 occur d in one (1.9%); while considering all abnormal karyotypes, there were three recurrences (2.9%).

Adult↗
PubMed1981

Principles of genetics as related to the chromosome disorders and congenital malformations with reference to prenatal diagnosis and genetic counseling.

A basic discussion of the chromosome disorders and congenital malformations with specific reference to syndromes of interest to the dermatologist is presented. Although the chromosome disorders are uncommon, an introduction to the most prevalent clinical findings should enable the clinician to increase his/her index of suspicion as to the presence of one of these disorders. The latest chromosome banding technics and their application to clinical diagnosis are discussed. Congenital malformations are also uncommonly seen in the practice of dermatology. However, approximately 7% of all newborns have a cutaneous lesion at birth; some of these are of serious medical significance or the manifestation of a systemic disease. These include café au lait marks, congenital nevocellular nevi, and sebaceous nevi. A basic understanding of the mechanics and theory of prenatal diagnosis is becoming increasingly necessary for the dermatologist. Recently, epidermolytic hyperkeratosis has ben diagnosed antenatally, with the promise of other primary dermatologic disorders also being amenable to detection before birth. As the ability to detect and diagnose genetic disease becomes more refined, patients who are at risk themselves or whose offspring are at risk for these disorders will require more detailed information than ever before. Appropriate advice regarding recurrence risk, full spectrum of disease, availability of prenatal diagnosis, and any potential therapy will have to be proffered via genetic counseling.

Chromosome Aberrations↗
PubMed1994

First-trimester maternal serum alpha-fetoprotein as a marker for fetal chromosomal disorders. Dutch Working Party on Prenatal Diagnosis.

We evaluated first-trimester maternal serum alpha-fetoprotein (MS-AFP) as a marker for fetal chromosomal disorders. The multicentre study was performed under the auspices of the Dutch Working Party on Prenatal Diagnosis. MS-AFP was measured in 2404 normal pregnancies and 72 chromosomally abnormal pregnancies. The median multiple of the normal median (MOM) in 32 Down's syndrome pregnancies was 0.83 with a 95 per cent confidence interval ranging from 0.60 to 1.04. The difference between the distributions of first-trimester MS-AFP in normal and Down's syndrome pregnancies was statistically significant (t-test: t = 2.34, P < 0.05). Thirty-one per cent of the Down's syndrome pregnancies were found below the tenth percentile. We found no difference between normal pregnancies and pregnancies with other chromosomal disorders (eight cases with trisomy 18, MOM = 1.26; seven cases with sex chromosome abnormalities, MOM = 1.07; 22 cases with a chromosomal mosaic pattern in chorionic villi, MOM = 1.08). We conclude that first-trimester MS-AFP can discriminate between normal and Down's syndrome pregnancies, but is not an effective marker. First-trimester MS-AFP has no value as a marker for other fetal chromosomal disorders.

Chromosome Aberrations↗
PubMed1998

Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.

PURPOSE: The chromosome 20 ring [r(20)] is a rare chromosomal disorder without clear phenotypical markers. We describe the electroclinical pattern in a group of patients with r(20). METHODS: We observed 3 patients (a boy, patient 1; his mother, patient 2; and an unrelated man, patient 3), performing prolonged video-EEG and cytogenetic studies and fluorescent in situ hybridization (FISH) with chromosome-specific telomeric probes. RESULTS: All 3 patients had a very similar abnormal electroclinical pattern characterized by long bursts or trains of rhythmic theta waves, which were sharply contoured or had a notched appearance (with no detectable clinical correlate), and generalized spike waves (SW) associated with seizures of probable frontotemporal origin (SFT). In all 3 patients, the cytogenetic analysis of T lymphocytes showed mosaicism with a normal cell line and a second cell line with a chromosome 20, although the latter was little represented in patients 2 and 3. A few cells with a single chromosome 20 were also found. The same cytogenetic findings were confirmed in the lymphoblastoid cell line of patient 1 and in the fibroblasts of patient 3. FISH with chromosome-specific telomeric probes and TTAGGG sequences demonstrated the integrity of the ring chromosomes. CONCLUSIONS: The clinical picture of these patients appears to be related to the instability of the r(20)-generating cells monosomic for chromosome 20 and is thus haploinsufficient for a gene. In these patients, the electroclinical pattern of theta waves (probably unrelated to epilepsy) and the SW and SFT, even with mild mental retardation (MR) or no MR and without dysmorphic features, suggest that the r(20) syndrome may be present.

Adolescent↗
PubMed1981

Sex chromosome disorders.

A critical and comprehensive review of the major sex chromosome disorders. The introduction briefly outlines the cytogenetic background to these disorders and refers to earlier reviews. The paper then reviews the clinical and psychiatric aspects of the various chromosome disorders. Male and female phenotypes are dealt with separately, with emphasis on psychological and behavioural manifestations including antisocial behaviour. Medico-legal implications are also reviewed, as are the implications for research.

Body Height↗
PubMed1992

First-trimester maternal serum human chorionic gonadotrophin as a marker for fetal chromosomal disorders. The Dutch Working Party on Prenatal Diagnosis.

The Dutch Working Party on Prenatal Diagnosis has initiated a study on the possibilities of first-trimester screening for fetal chromosomal disorders. We report on maternal serum human chorionic gonadotrophin (MS-hCG) measurements in 1348 pregnancies with a chromosomally normal fetus and 53 pregnancies with a chromosomally abnormal fetus. The median MS-hCG concentration in 24 pregnancies with Down's syndrome was 1.19 multiples of the normal median (MoM). The MS-hCG distributions in normal and Down's syndrome pregnancies did not differ significantly (t-test: t = 1.945, p greater than 0.05). We also found no difference between normal pregnancies and pregnancies with other chromosomal disorders (six cases of trisomy 18, MoM = 0.80; four cases of sex chromosome abnormality, MoM = 1.01; 17 cases of chromosomal mosaicism in chorionic villi, MoM = 1.11). Selecting an upper limit at the 90th centile could detect 25 per cent of pregnancies with Down's syndrome. We conclude that, in the first trimester, MS-hCG as a screening factor for Down's syndrome is of minor value. However, MS-hCG could be a useful factor in a first-trimester screening programme based on a combination of markers.

Chorionic Gonadotropin↗
PubMed1999

Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders.

We report the results of a prospective study using quantitative fluorescent polymerase chain reaction (QF-PCR) and small tandem repeat markers (STR) for the rapid prenatal detection of aneuploidies in a group of pregnant women at increased risk of having fetuses with numerical chromosome disorders. Amniotic fluid samples (n = 52) were collected from mothers undergoing prenatal invasive testing for fetal abnormalities on ultrasonographic examination or abnormal maternal serum aneuploidy screening results. All samples were tested by cytogenetic analysis, but rapid diagnoses of aneuploidies were offered and performed using QF-PCR analysis with several STRs specific for chromosomes 21, 18, 13 and X. All cases with numerical chromosome aberrations involving chromosomes 21, 18 and 13 (n = 8) were correctly diagnosed. Three gonosomal aneuplodies (one 47,XXY and two 45,X) were not detected because they were uninformative for the X markers. Another sample with a deletion (46,XX,7q-), that the present assay was not designed to detect, was not identified. One sample was heavily contaminated with maternal blood and the results of the QF-PCR assays were uninformative. The remaining samples from normal fetuses provided QF-PCR patterns disomic for chromosomes 21, 18, 13 and X. Our study demonstrates that QF-PCR is a rapid method for the detection of common numerical chromosome disorders and it may play an important role in prenatal diagnosis for women at high risk for fetal aneuploidy.

Amniocentesis↗
PubMed1996

[Improved prenatal diagnostic possibilities for congenital abnormalities and chromosomal disorders. Advantages and disadvantages of screening and diagnostic methods].

Significant progress has taken place in recent years regarding prenatal screening and diagnosis of severe foetal malformations and chromosomal disorders. This review describes blood sample screening in 15-16 week of pregnancy compared with the other prenatal examinations such as amniocentesis and chorionic villus sampling. Serological screening of all pregnant women based on a blood sample taken at 15-16 weeks of pregnancy would lead to identification of about 70% of the screened women having to undergo a conclusive investigation i.e. either a thorough ultrasound examination or an amniocentesis. This is compared with the present Danish prenatal program, where invasive examinations are carried out in about 13% pregnant women without a high detection rate for malformations and chromosome disorders. The Danish National Health Board has recently published new guidelines where the blood test is primarily offered to pregnant women over 34 years of age and not to all pregnant women as in many other countries.

Chromosome Aberrations↗
PubMed2005

Chromosomal disorders and nuclear and cell destruction in cleaving human embryos.

Three types of defects of preimplantation embryogenesis contribute to the developmental arrest of cleaving human embryos: blastomere fragmentation, abnormal nuclear status and chromosomal disorders. Data concerning the relation and succession of these abnormalities during first mitotic cycles of the human zygote are controversial and mainly empirical at present. In this study we have performed simultaneous evaluation of blastomere fragmentation, nuclear apoptotic changes and the ploidy of four chromosomes (1, 5, 19 and X or 18, 21, X and Y) in 193 human embryos. Another group of 28 embryos was subjected to TUNEL for confirmation of apoptosis in blastomere nuclei. Nuclei with apoptotic chromatin were seen in nearly 1/10 of blastomeres of embryos with good morphology and in more than 1/5 of blastomeres of embryos with more than 20% fragmentation. The correct number of investigated chromosomes was registered in 85.2% of successfully tested embryos. Chromatin apoptotic changes are the only limiting factor for the success of chromosomal FISH tests. Nearly 1/2 of embryos with at least one apoptotic nucleus were chromosomally abnormal. For the embryos that contain only normal nuclei, the rate of ploid normality was more than 89%. The rate of euploidy was higher (66%) in embryos with a significant degree of cell fragmentation. Moderate cell fragmentation was not related to significant increase of chromatin and chromosomal disorders. In a substantial portion of abnormal blastomeres, chromatin damage preceded cell fragmentation. Nuclear destruction in human blastomeres was illustrated by fluorograms of different stages of chromatin lesions.

Aneuploidy↗
PubMedDate not supplied

Macrocephaly and chromosome disorders: a case report.

We report the case of a young patient with macrocephaly. After excluding the most frequent causes of macrocephaly (hereditary disorders, degenerative, osseous and metabolic diseases, neurocutaneous syndromes and cerebral malformations), the likelihood of a chromosome disorder was investigated, revealing an unbalanced de novo translocation: 46,X,der(X),t(X;7) (q13 or q13.2; q11.23 or q21.11), i.e., a partial trisomy of the long arm of chromosome 7, associated with a partial monosomy of the long arm of chromosome X. Though this chromosome disorder is relatively rare, it should be considered in the differential diagnosis of patients under one year of age presenting with macrocephaly, scoliosis and non-progressive psychomotor retardation.

Brain↗