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Results for “Chromosome Disorders”

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PubMed2005

Chromosomal disorders associated with epilepsy.

Epilepsy is among the most common findings associated with chromosome aberrations, particularly those involving autosomal chromosome imbalances. Most chromosome aberrations can be associated with different seizure types, but there are a few aberrations featuring specific seizure and electroencephalographic (EEG) patterns. The analysis of electro-clinical patterns associated with chromosomal aberrations is a major tool in the identification of epilepsy susceptibility genes. Advances in molecular cytogenetic techniques will certainly increase the diagnostic yield, and an increasing number of individuals previously diagnosed as having "cryptogenic" epilepsy will turn out to have an underlying chromosomal aberration. We review the types of seizures, EEG findings, and their natural history in the chromosomal disorders that are consistently associated with epilepsy.

Chromosome Aberrations↗
PubMed2001

Decision analysis of prenatal testing for chromosomal disorders: what do the preferences of pregnant women tell us?

Current guidelines recommend offering invasive testing for chromosomal disorders only to women who are aged 35 or older, or who are at similarly elevated risk (as determined by maternal serum and/or ultrasonographic screening). We conducted a decision analysis, using preference scores obtained from pregnant women, to determine whether current guidelines maximize the health-related quality of life of these women. If only miscarriage and chromosomal abnormalities are considered, the expected value of testing exceeds that of not testing for women 30 years of age or older. However, if a comprehensive range of relevant testing outcomes is considered, testing offers a higher expected value than not testing, regardless of age. Furthermore, patient preferences for specific testing outcomes play a much more substantial role in determining the course of action with the highest expected value than does the probability of any of the possible testing outcomes. The current age- and risk-based guideline for prenatal diagnosis does not maximize expected value and fails to appropriately consider individual patient preferences. For counseling purposes, how an individual values the presence and timing of fetal chromosomal information should be carefully understood.

Abortion, Eugenic↗
PubMedDate not supplied

[Clinical and biological significance of chromosome disorders in acute leukemia in children].

Chromosomal examination was made in the bone marrow and lymphocytes of the peripheral blood of 37 children with acute leukemia. Of them 25 had acute lymphoblastic leukemia (ALL), 12 had acute nonlymphoblastic leukemia (ANLL). NA karyotype was registered in 13 patients (5 with ALL, 9 with ANLL), AA karyotype in 17 children (12 with ALL, 5 with ANLL). In All the following chromosomal markers were identified: del(6)/(q22), del(7)(q32), del(11)(q23), 9p+, t(8; 14) (q24; q32). In ANLL there were: 46, XY, t(3; 8)/46, XY; 47, XY, +16, +(2; 14)--M1-form; 46, XX, t(8; 21); 46, XX, t(8; 21)/46, XX--M2-form; 47, XX, +mar/46, XX; 47, XY, +12--M4-form; 46, XX, del(16)/46, XX, 47, XY, +16; 48, XY, +5, +8--M5-form FAB.

Acute Disease↗
PubMed1999

Decisions about prenatal testing for chromosomal disorders: perceptions of a diverse group of pregnant women.

We conducted a study to elucidate factors influencing women's decisions regarding prenatal genetic screening for and diagnosis of chromosomal disorders and to learn about their experiences with these tests and with the medical system. Using focus group interviews and questionnaire assessments, we obtained detailed impressions of a diverse group of 75 pregnant women. Participants varied with respect to race/ethnicity, religious background, and reproductive history, as well as in their decisions about use of prenatal screening and diagnostic testing. Substantial variation surfaced in attitudes toward testing. Factors influencing women's views included available resources, feelings about having a child with Down syndrome, moral beliefs, family and social influences, perceptions of one's own health, the difficulty of becoming pregnant, and willingness to put the fetus at elevated miscarriage risk. Such findings indicate that age-based policies regarding access to prenatal diagnoses that, among other reasons, are based on the balance of risks between bearing a child with a chromosomal abnormality versus procedure-related loss are incompatible with the range of concerns that women bring to this decision and the weight individual women may assign to the outcomes.

Abortion, Eugenic↗
PubMed1993

Chromosomal damage in lymphocytes of controls and patients with autosomal and sex-chromosomal disorders.

The frequency of chromosomal aberrations was studied in lymphocytes from karyotypically abnormal patients and normal donors. There was no difference between normal females and Down's syndrome female patients. Male Down's syndrome patients showed a significant increase in aberrations of normal diploid male lymphocytes and a significant difference was observed in male and female Down's syndrome patients. Sex-chromosomally abnormal patients, both X and Y chromosome deficient, showed elevated chromosomal aberrations compared with age and sex-matched normal diploid cells.

Adolescent↗
PubMed2006

Quantitative fluorescent polymerase chain reaction versus cytogenetics: risk-related indication and clinical implication of nondetected chromosomal disorders.

BACKGROUND: The rapid detection of aneuploidies by quantitative fluorescent polymerase chain reaction (QF-PCR) allows reliable prenatal diagnosis of trisomies 21, 18, and 13. Discussion has been raised as to whether single QF-PCR could be an alternative to traditional cytogenetic karyotyping for certain referral categories. OBJECTIVE: To evaluate an indication-based classification of cases at risk of missing clinically relevant chromosomal disorders by QF-PCR. METHODS: From October 1999 to November 2003, 4,682 of 14,123 patients referred for amniocentesis decided to have QF-PCR as a rapid adjunct to conventional cytogenetic evaluation. Patients were classified according to the risk of missing chromosomal abnormalities by QF-PCR based on anamnestic risk and ultrasound prior to amniocentesis. The results in these two defined categories were compared in relation to the clinical significance of cytogenetic results. RESULTS: QF-PCR and conventional cytogenetic analysis had concordant results in 4,617 of 4,682 (98.6%) cases. Thirty-six of 110 (32.2%) clinically significant chromosomal abnormalities were missed by QF-PCR. Patients classified not to be at risk of missing chromosomal abnormalities using QF-PCR had a residual risk of 1/166 (0.6%) for chromosomal distortions of clinical significance. CONCLUSION: Classification by anamnestic and sonographic data does not specifically identify patients at risk of structural abnormalities. Clinical relevance of the nondetected anomalies essentially justifies traditional karyotyping regardless of risk classification.

Amniocentesis↗
PubMed1990

[Chromosomes and chromosome disorders].

The risk of bearing a child with chromosomal defects increases once the mother reaches the age of 35; the principal indication for chromosomal examination of the fetus is that the pregnant woman is "older". Chromosomal examination of new-born babies is indicated if it is suspected that dysmorphic features may depend on cytogenetic deviation. Other indications include suspicion of so-called fragile X syndrome or rare congenital disorders such as Fanconi's anemia, Xeroderma pigmentosum etc. Chromosomal examination is routine today in investigation of suspected or verified hematological diseases. Nevertheless the possibilities of cytogenetic techniques have not yet been used to the full in diagnostics, assessment of prognoses, choice of therapy and follow-up of disease.

Chromosome Aberrations↗