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PubMed1984

Chromosome abnormalities in leukaemia and lymphoma.

Using improved techniques, chromosome abnormalities have now been identified in the majority of haematological disorders. Structural abnormalities have proved specific for morphological varieties of both leukaemia and lymphoma, in some cases specific for cell type, as in acute promyelocytic leukaemia, in others specific for cytogenetic varieties within a morphological group, as in the t(8;21) variety of acute myeloid leukaemia (M2). The 9;22 translocation found in most cases of chronic granulocytic leukaemia has been well recognised as a diagnostic feature for many years, and evolution of this disease to its acute leukaemic phase is accompanied by additional abnormalities. Chromosome changes in acute lymphocytic leukaemia are considered to be the most important independent prognostic indicator in this disease and more recently, changes which may have therapeutic implications have been found in almost all patients with Non Hodgkin's Lymphoma. Chromosome studies should be performed on the involved cells in all patients presenting with leukaemia and lymphoma for diagnosis and prognosis, and to establish a base line for remission and evolution of the disease. Such studies are also yielding valuable information regarding the derivation and aetiology of these disorders.

Burkitt Lymphoma↗
PubMed1978

Down's syndrome and leukemia: mechanism of additional chromosomal abnormalities.

There is an increased incidence of acute leukemia in patients with Down's syndrome patients have a trisomy-21 chromosomal pattern, and chromosomal abnormalities can be seen in acute leukemia. It is possible that the increased incidence of acute leukemia in Down's syndrome persons may be due in part to their chromosomal abnormalities. Such abnormalities, some appearing in a stepwise clonal evolution, were found in five Down's syndrome patients, four with acute leukemia and one with abnormal regulation of leukopoiesis. Morphological abnormal chromosomes were also found in three patients. These chromosomal abnormalities are similar to those seen in non-Down's syndrome leukemic patients. There is suggestive evidence for clonal evolution hypothesis of luekemogenesis in non-Down's syndrome patients. The abnormal chromosomal pattern reported in our Down's syndrome patients could be the result of nondisjunction in mitosis, and leukemia may be the phenotypical expression of this nondisjunction.

Acute Disease↗
PubMed1987

Variation in the frequency and type of sperm chromosomal abnormalities among normal men.

The chromosomal constitution of 1582 human sperm from 30 normal men of proven fertility was investigated after sperm penetration of hamster eggs. A minimum of 30 sperm chromosome complements were analysed per donor so that the distribution and variation in the frequency and type of sperm chromosomal abnormalities could be assessed. The mean frequency of sperm chromosomal abnormalities in individual men was 10.4% (+/- 6.0%) with a range of 0-24.7%. For numerical abnormalities the mean was 4.7% (+/- 2.9%) with a range of 0-10% and for structural abnormalities the mean was 6.2% (+/- 6.0%) with a range of 0-23.1%. The 95% confidence intervals for the mean of an individual male were 0-10.5% for numerical abnormalities, 0-18.2% for structural abnormalities, and 0-22.4% for total abnormalities. There was a significant excess of hypohaploid complements compared with hyperhaploid complements. Since hypohaploid complements could be caused by technical artefact, a conservative estimate of aneuploidy was obtained by doubling the frequency of hyperhaploid sperm, yielding an estimate of 2.4% aneuploidy. The proportion of X-bearing (53%) and Y-bearing (47%) sperm did not differ significantly. These results were compared to the other two large studies of sperm chromosome complements from normal men.

Adult↗
PubMed1993

Fetal growth retardation: associated malformations and chromosomal abnormalities.

OBJECTIVE: Our objective was to determine the incidence and pattern of chromosomal abnormalities in fetal growth retardation. STUDY DESIGN: Blood karyotyping was performed in 458 fetuses referred to us for further assessment of growth retardation at 17 to 39 weeks' gestation. RESULTS: The fetal karyotype was normal in 369 and abnormal in 89 (19%) of the cases. The most common chromosomal defect in the group referred at < 26 weeks' gestation was triploidy; in those referred at > or = 26 weeks, it was trisomy 18. The incidence of fetal autosomal chromosome aberrations increased, whereas the incidence of triploidy did not change, with maternal age. Ninety-six percent of chromosomally abnormal fetuses had multisystem fetal defects that were characteristic of the different types of chromosomal abnormalities. Compared with those fetuses with a normal karyotype, the chromosomally abnormal group had a higher mean head circumference/abdominal circumference ratio, a higher incidence of normal or increased amniotic fluid volume, and normal waveforms from the uterine or umbilical arteries or both. CONCLUSION: The findings of the different types of chromosomal abnormalities and their ultrasonographically detectable phenotypic expression provide the background for prospective studies to determine the incidence of chromosomal abnormalities in unselected populations of small-for-gestational-age fetuses.

Abnormalities, Multiple↗
PubMedDate not supplied

Sperm chromosomal abnormalities in patients with unexplained recurrent abortions.

Cytogenetic studies showed that about half of concepti were chromosomally abnormal in first trimester abortions. Sperm chromosomal abnormalities in men with normal karyotype could occur during spermatogenesis. The objective of this study was to evaluate sperm chromosomal abnormalities in patients with unexplained recurrent abortions. A total of 14 couples with normal karyotype, and negative workup for endocrine, immune and anatomical causes of recurrent abortion was investigated. Semen analysis was performed and chromosomal abnormalities were assessed by fluorescent in situ hybridization for chromosomes 13, 18, 21, X and Y. The average number of abortions was 5.8. The incidence of chromosomal abnormalities was 16.5% that was higher when compared to baseline (4.6%). In conclusion, a high rate of sperm chromosomal abnormalities was observed in recurrent abortion patients. These abnormalities might form during spermatogenesis since all patients had normal karyotype. Sperm chromosomal abnormality analysis can be included into recurrent abortion workup when no other cause is detected.

Abortion, Habitual↗
PubMed1994

Analysis of the p53 gene in myeloid malignancies associated with chromosomal abnormalities involving the short arm of chromosome 17.

p53 protein is encoded by a tumor-suppressor gene located on the short arm of chromosome 17. We looked for mutations or rearrangements of the p53 gene in five patients with acute transformation of a chronic myeloproliferative disorder and cytogenetic anomalies involving the short arm of chromosome 17. Two patients had a isochromosome i(17q); three more patients showed the presence of unbalanced translocations involving chromosome 17. One of these patients had a single base pair deletion, causing a frameshift mutation, in the exon 5 of the p53 gene. The karyotype of this patient showed a translocation t(5;17)(q11;p11), with loss of a normal homologue of both chromosomes 5 and 17. In all other cases the configuration of the p53 gene, as tested by PCR-SSCP analysis of exons 5 to 9 and Southern blot, was normal. Our data suggest that mutations of the p53 gene occur in a minority of hemopoietic malignancies characterized by monosomy for the short arm of chromosome 17. However, the unbalanced translocation t(5q;17p) could be a chromosomal abnormality specifically associated with loss of function of the p53 gene.

Base Sequence↗
PubMed2001

Chromosomal abnormalities in idiopathic congenital bilateral vocal cord paralysis.

Idiopathic congenital bilateral vocal cord paralysis (BVCP) can occur as an isolated abnormality or as part of a multisystem disorder. The chromosomal abnormalities found in 4 children who presented with idiopathic congenital BVCP in association with other congenital abnormalities between January 1991 and April 1999 are described. Three children had abductor paralysis, and tracheostomy was required in 1. The fourth child had adductor paralysis and required a feeding gastrostomy for management of aspiration. There was no clinically significant improvement in vocal cord function observed in any child. Idiopathic congenital BVCP, when associated with other congenital disorders, may occur as a consequence of an underlying chromosomal abnormality, and chromosome studies should be performed in this group of children. Similarly, the possibility of vocal cord dysfunction should be considered in children who are found to have chromosomal abnormalities. A chromosomal abnormality appears to preclude the possibility of early spontaneous improvement in vocal cord function.

Abnormalities, Multiple↗
PubMed1985

Chromosomal abnormalities in acute leukemia.

Clonal chromosome abnormalities are now detected in 65-85% of patients with acute leukemia. The specific chromosome abnormalities seen in acute lymphoblastic leukemia (ALL) and acute nonlymphoblastic leukemia (ANLL) generally differ and in both diseases are associated with specific clinical and hematologic features. Moreover, in both ALL and ANLL karyotype has been found to be an independent prognostic factor predicting achievement of complete remission and its duration, as well as survival, even when other risk factors are considered. Consequently, chromosome analysis is required in all newly diagnosed patients with ALL and ANLL.

Acute Disease↗
PubMed2005

Trisomies and other chromosome abnormalities detected after positive sonographic findings.

OBJECTIVE: To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in thefirst and second trimester of pregnancy. STUDY DESIGN: The study investigated chromosome abnormalities detected in cases with prior abnormal ultrasoundfindings. During a 10-year period there were 1907 invasive interventions carried out with the purpose of chromosome analysis. The intervention was genetic amniocentesis in 1619 cases and chorionic villus sampling in 288. RESULTS: Karyotyping revealed 103 cases (5.4%) of chromosome abnormalities. Abnormalities with subcutaneous edema were examined: abnormal karyotype was found in 20% of cases with nonimmune hydrops, 48.1% of cases with cystic hygroma and 53.8% of cases with nonimmune hydrops and cystic hygroma together, 8.3% of cases with nuchal edema in the first trimester and 5.5% in the second trimester. The incidence of chromosome abnormalities in cases of cerebral anomalies was 6.3% of cases with ventricular dilatation, 3.6% of cases with choroid plexus cysts and 15.9% of cases with other cranial anomalies. Regarding abnormalities of the heart, isolated echogenic intracardiac focus and ventricular septal defects were not associated with chromosome abnormality, but, in conjunction with other positive ultrasound findings, the incidence of chromosome abnormalities was 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence of chromosome abnormalities was 1%. In cases of bilateral pyelectasis or pyelectasis associated with other anomalies, the incidence was 3%. In terms of anomalies of the abdominal wall and abdomen, the incidence of association with chromosome abnormalities was 9.5% in cases of omphalocele, 11.8% in cases of duodenal atresia and 5.7% in cases of echogenic bowel. In cases of short femur and humerus the rate of abnormal karyotypes was 16%. CONCLUSION: Ultrasound plays an important role in prenatal diagnosis. In cases of positive ultrasound findings, karyotyping is reasonable.

Amniocentesis↗
PubMed2004

Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound.

OBJECTIVES: To determine the prevalence of chromosomal abnormalities in fetuses with open neural tube defects (NTD) undergoing prenatal chromosome analysis. The role of prenatal ultrasound in detecting those with an underlying chromosomal abnormality was also investigated. METHODS: Over a 6-year period, 144 fetuses with open NTD underwent prenatal chromosome analysis between 12 and 37 weeks of gestation, as part of a prospective, multicenter prenatal diagnosis and counseling program in Chile. This population included 66 fetuses with spina bifida, 46 with acrania/anencephaly, 21 with cephalocele and 11 with iniencephaly. A confident prenatal diagnosis was made in 143 fetuses (99%) and confirmed postnatally in all cases. RESULTS: An underlying chromosomal abnormality was diagnosed in 10 fetuses (7%), six with spina bifida, three with cephalocele and one with craniorachischisis. The prevalence of chromosomal abnormality varied according to the defect present in the fetus, with a 14% (3/21) prevalence among those with cephalocele, 9% (6/66) among those with spina bifida and 2% (1/57) among those with lethal defects such as acrania, anencephaly or iniencephaly. Karyotype results revealed trisomy 18 in seven cases, trisomy 13 in two and mosaicism for a marker chromosome in one. Prenatal ultrasound before the procedure showed that all chromosomally abnormal fetuses had additional findings. The prevalence of chromosomal abnormality in fetuses with spina bifida and cephalocele was higher when chromosome analysis was performed at or before 24 weeks of gestation in comparison to those performed after 24 weeks (5/31 (16%) vs. 4/56 (7%), respectively). However, this difference did not reach statistical significance, probably due to the small number of cases. CONCLUSIONS: A significant number of fetuses with open NTD are chromosomally abnormal. Although prenatal chromosome analysis should be considered in all cases, prenatal ultrasound seems effective in identifying those fetuses with an underlying chromosomal abnormality.

Adult↗
PubMed1997

Recurrence risk of a serious, noninherited chromosomal abnormality.

OBJECTIVE: To investigate the recurrence risk of a serious, noninherited chromosomal abnormality. DESIGN: Prospective and retrospective analysis. SETTING: University-based prenatal diagnosis clinic. PATIENT(S): Data on 240 pregnancies in 165 couples after a pregnancy with a serious chromosomal abnormality. RESULT(S): Autosomic trisomic pregnancy had occurred in 133 families. In these families, there were 193 new pregnancies 132 in women under 35 years and 61 in women over 35 years. The recurrence rate was 2.3% in the women under 35 years and 8.2% in the women over 35 years. Pregnancy had occurred in 18 families with a sex-chromosomal abnormality. In these families, there were 24 new pregnancies, 21 in women under 35 years and 3 in women over 35 years. All pregnancies were chromosomally normal. Some other serious chromosomal abnormality had occurred in 14 families. In these families, there were 23 new pregnancies. Chromosomal abnormality recurred in two families: in a woman under 35 years and in a woman over 35 years. CONCLUSION(S): The high recurrence rate of chromosomal abnormalities even in women under 35 years warrants fetal chromosomal investigation in new pregnancies.

Adult↗
PubMed1977

Specific break points in chromosomally abnormal human fibroblast subpopulations.

Common chromosome break points were found in a banding study of 25 chromosomally abnormal fibroblast clones derived from normal individuals and patients exposed to environmental carcinogens. Of 81 break points, 38% appeared to be in terminal bands. This specificity did not appear to be the consequence of the biased recognition of exchanges. In addition, specificities for break points at exact interstitial loci were detected. The presence of clones in cultures grown in a wide variety of conditions, the finding of two identical clones in two independent lines from the same biopsy, and the absence of any obvious continuing instability in lines support the view that chromosomally abnormal fibroblasts occur in vivo.

Adult↗
PubMed1992

[Chromosome abnormalities in hypospadias? An analysis of 131 patients].

We performed chromosome studies in 131 patients presenting with hypospadias, with the aim of detecting any causal connections between chromosomal abnormalities and the induction of hypospadias. Autosomal abnormalities were revealed in 6 and sex chromosomal abnormalities in 10 patients. Although a significant causal relationship between the occurrence of hypospadias and chromosomal abnormalities was seen in this study in only two cases of mixed gonadal dysgenesis (45,X/46,XY and streak gonad), the high incidence of chromosomal abnormalities observed (12.2%) seems noteworthy compared with the incidence of only 0.61% in the normal male population.

Adolescent↗
PubMed2006

Is there a relationship between sperm chromosome abnormalities and sperm morphology?

This review explores the relationship between sperm chromosomal constitution and morphology. With the advent of techniques for obtaining information on the chromosome complements of spermatozoa, this relationship has been studied in fertile men and in men with a high frequency of chromosomal abnormalities. Using human sperm karyotype analysis, no relationship between sperm chromosome abnormalities and morphology was found in fertile men, translocation carriers or post-radiotherapy cancer patients. Fluorescence in situ hybridization (FISH) analysis has not generally revealed a specific association between morphologically abnormal sperm and sperm chromosome abnormalities, but has indicated that teratozoospermia, like other forms of abnormal semen profiles (aesthenozoospermia, oligozoospermia) is associated with a modest increase in the frequency of sperm chromosome abnormalities. However, FISH studies on some infertile men and mouse strains have suggested that certain types of morphologically abnormal spermatozoa, such as macrocephalic multitailed spermatozoa, are associated with a very significantly increased frequency of aneuploidy. Thus, there may be an association between sperm morphology and aneuploidy in infertile men with specific abnormalities.

Adult↗
PubMed1995

Fetal karyotyping for chromosome abnormalities after an unexplained elevated maternal serum alpha-fetoprotein screening.

OBJECTIVE: To study the chromosome abnormality rate among women with elevated levels of maternal serum alpha-fetoprotein (MSAFP) and the types of chromosome abnormalities in this population, and to compare this rate with reports in the literature and the rate observed in the general population. METHODS: We studied 8097 women who chose to undergo amniocentesis and fetal karyotyping after having an elevated MSAFP test of 2.5 multiples of the median (MOM) or higher. All abnormal karyotypes were reviewed and grouped according to whether the elevated MSAFP value could be explained by a ventral wall or neural tube defect. RESULTS: The overall chromosome abnormality rate was 13.83 per 1000 amniocenteses. The rate in the "unexplained" group was 10.92 per 1000 amniocenteses. Just over half (53%) of the abnormal karyotypes were autosomal anomalies, and 47% were sex chromosome abnormalities. The autosomal aneuploidies observed most frequently were triploidy and trisomy 13. The sex chromosome abnormalities observed most frequently were the XXY and XYY karyotypes. CONCLUSION: Women who have unexplained elevated MSAFP values of 2.5 MOM or greater have a twofold increase in the rate of chromosome abnormalities in their fetuses compared with the general population (P < or = .001). This rate is consistent with other studies that used a 2.5 MOM cutoff. Studies that used a 2.0 MOM cutoff have reported chromosome abnormality rates that do not vary from general population estimates.

Adult↗
PubMed2005

The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing.

OBJECTIVE: To assess the implications of a change in prenatal diagnosis policy from full karyotype analysis to rapid trisomy testing for women referred primarily for increased risk of Down's Syndrome. DESIGN: Retrospective collection and review of data. SETTING: The four London Regional Genetics Centres. POPULATION: Pregnant women (32,674) in the London area having invasive prenatal diagnosis during a six-year three-month period. METHODS: Abnormal karyotypes and total number of samples referred for raised maternal age, raised risk of Down's Syndrome following serum screening or maternal anxiety were collected. Abnormal karyotypes detected by molecular trisomy detection were removed, leaving cases with residual abnormal karyotypes. These were assessed for their clinical significance. Pregnancy outcomes were ascertained by reviewing patient notes or by contacting obstetricians or general practioners. MAIN OUTCOME MEASURES: Proportion of prenatal samples with abnormal karyotypes that would not have been detected by rapid trisomy testing, and the outcome of those pregnancies with abnormal karyotypes. RESULTS: Results from 32,674 samples were identified, of which 24,891 (76.2%) were from women referred primarily for Down's Syndrome testing. There were 118/24,891 (0.47%) abnormal sex chromosome karyotypes. Of the samples with autosomal abnormalities that would not be detected by rapid trisomy testing, 153/24,891 (0.61%) were in pregnancies referred primarily for Down's Syndrome testing. Of these, 98 (0.39%) had a good prognosis (46/98 liveborn, 3/98 terminations, 1/98 intrauterine death, 1/98 miscarriage, 47/98 not ascertained); 37 (0.15%) had an uncertain prognosis (20/37 liveborn, 5/37 terminations; 12/37 not ascertained) and 18 (0.07%) had a poor prognosis (1/18 liveborn, 2/18 miscarriage, 11/18 terminations, 4/18 not ascertained). CONCLUSIONS: For pregnant women with a raised risk of Down's Syndrome, a change of policy from full karyotype analysis to rapid trisomy testing would result in the failure to detect chromosome abnormalities likely to have serious clinical significance in approximately 0.06% (1 in 1659) cases. However, it should be noted that this figure may be higher (up to 0.12%; 1 in 833) if there were fetal abnormalities in some of the pregnancies in the uncertain prognosis group for which outcome information was not available.

Chromosome Disorders↗
PubMed1987

Role of chromosomal abnormalities in chronic lymphocytic leukemia.

Chromosomal aberrations occur in both B-CLL and T-CLL. The polyclonal B-cell mitogens, in particular Epstein-Barr virus and lipopolysaccharide from E. coli, have been used successfully to reveal chromosomal abnormalities in 40-60% of patients with B-CLL, while T-cell mitogens have shown chromosomal aberrations in T-CLL. The most common clonal chromosomal aberration in B-CLL is an extra chromosome 12, alone or together with other abnormalities. Other common aberrations are 14q+, structural aberrations on 6, 11, 12 and 13. Proto-oncogenes are frequently located close to breakpoints. The proto-oncogene c-K-ras is located on chromosome 12 and an abnormal transcript has recently been implicated in a subset of B-CLL-patients. An extra chromosome 12 as well as multiple chromosomal abnormalities in B-CLL appear to predict a less favourable prognosis. T-CLL is in most patients characterized by an inv(14), an extra 8q and structural abnormalities in chromosome 7. The genes for the specific T-cell receptor as well as the immunoglobulin heavy chain are located on these chromosomes. Chromosomal aberrations appear to have pathogenetic importance in both B-CLL and T-CLL.

Chromosome Aberrations↗