WHOSE CHROMOSOMES TO COUNT IN MONGOLISM?

PEDIATRICS ◽  
1965 ◽  
Vol 36 (4) ◽  
pp. 620-623
Author(s):  
R. James McKay
Keyword(s):  
Chromosomal Abnormality ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Laboratory Method ◽  
Practical Approach ◽  
Live Births ◽  
Normal Phenotype ◽  
Theoretical Ratio ◽  
The Family ◽  
Phenotype Characteristic

Every physician who must make decisions in the management of a child with Down's syndrome faces the problem of whether or not chromosomal analyses should be done and, if so, upon which members of the family. The purpose of such analyses is the identification of those individuals who may be expected to have an increased incidence of mongolism among their offspring as a result of a translocation of a 21 chromosome, a 21 isochromosome, mosaicism for 21-trisomy, or 21-trisomy itself. However, the high cost and difficulty of obtaining chromosomal analyses require that their number be kept to the minimum necessary, and that appropriate short cuts in the laboratory method also be applied whenever possible. The following paragraphs will attempt to lay a base for, and to outline, a logical and practical approach to the chromosomal screening of relatives of patients with Down's syndrome. Table I lists various parental abnormalities involving the 21 chromosome, together with the theoretical proportion of cases of mongolism to total live births for each. In considering this table, the reader should keep in mind that it refers to an estimated 1 or 2% only of parents of patients with Down's syndrome. In an estimated 98-99% of instances, both parents are chromosomaliy normal. Although the observed proportion of cases of mongolism to total live births approximates the theoretical ratio among the infants of mothers with the phenotype characteristic of Down's syndrome, the observed proportion is lower than the theoretical ratio among the children of parents with a normal phenotype and a chromosomal abnormality predisposing to mongoloid offspring.

scholarly journals Multiple subpleural cysts in the lungs in a child with Down’s syndrome

2021 ◽  
Vol 66 (4) ◽  
pp. 95-100
Author(s):  
N. S. Lev ◽  
M. V. Kostyuchenko ◽  
I. E. Zorina ◽  
L. V. Sokolova ◽  
Yu. L. Mizernitsky
Keyword(s):  
Cognitive Impairment ◽  
Pulmonary Disease ◽  
Chromosomal Abnormality ◽  
Clinical Case ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Common Cause ◽  
Live Births ◽  
Dysmorphic Features ◽  
Pulmonary Pathology

Down’ssyndrome is the most common chromosomal abnormality in live births. Due to the complete or partialtrisomy of chromosome 21the Down’s syndrome causes cognitive impairment, dysmorphic features and congenital mal formations. Pulmonary disease is the most common cause of death in patients with Down’s syndrome. The article highlights the pulmonological problems of the patients, and it also describes a clinical case of a child with Down’s syndrome with pulmonary pathology.

Down's Syndrome and the Family

1982 ◽  
Vol 6 (1) ◽  
pp. 21-42
Author(s):  
Olwen Rowlands
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
The Family

Trisomy 21 in One of Twin Fetuses

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 52-53
Author(s):  
Richard H. Heller ◽  
Lee S. Palmer
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Healthy Infant ◽  
The Other ◽  
Technical Problems ◽  
The Family ◽  
Successful Execution

Both the detection of twins and the successful execution of a double amniocentesis pose significant technical problems in prenatal diagnosis. A case is reported in which one of twin fetuses had trisomy 21 and the other was chromosomally normal. Following counseling, the family chose to continue the pregnancy. At term, the mother was delivered of a healthy infant and a severely macerated fetus with stigmata suggestive of Down's syndrome.

Anorexia Nervosa in Down's Syndrome—A Case Report

1984 ◽  
Vol 145 (2) ◽  
pp. 195-196 ◽  
Author(s):  
D. J. Cottrell ◽  
A. H. Crisp
Keyword(s):  
Body Weight ◽  
Anorexia Nervosa ◽  
Case Report ◽  
Late Onset ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Treatment Programme ◽  
Grief Work ◽  
The Family ◽  
Normal Body Weight

SummaryA case is described of anorexia nervosa arising in a mentally-handicapped 35-year old person with Down's syndrome. The late onset is accounted for on the grounds that adolescent challenges had only recently arisen in this instance. Removal of the patient from the provocative situation, coupled with some effective psychotherapeutic ‘grief work’ with the family, was associated with restoration of normal body weight and menstrual function, following the patient's acceptance of the usual re-feeding treatment programme.

scholarly journals Reliability of Statistics on Down's Syndrome Notifications

1997 ◽  
Vol 4 (2) ◽  
pp. 95-97 ◽  
Author(s):  
T Huang ◽  
H C Watt ◽  
N J Wald ◽  
J K Morris ◽  
D Mutton ◽  
...  
Keyword(s):  
Maternal Age ◽  
Antenatal Diagnosis ◽  
Down's Syndrome ◽  
Age Distribution ◽  
Down’S Syndrome ◽  
England And Wales ◽  
Birth Prevalence ◽  
Live Births ◽  
National Statistics ◽  
Using Data

Objectives— To evaluate the completeness of notifications of Down's syndrome live births and terminations to the Office for National Statistics (ONS) using data from the National Down Syndrome Cytogenetic Register (NDSCR). To examine the agreement of observed birth prevalence of Down's syndrome with the expected birth prevalence derived from published maternal age specific rates. Methods— The number of live births (adjusted to allow for the estimated under-ascertainment) and the number of terminations due to fetal Down's syndrome from NDSCR were compared with those figures reported to the ONS. Subsequently, using the NDSCR figures, the live birth prevalence of Down's syndrome that would have occurred in the absence of antenatal diagnosis and selective termination was calculated in England and Wales in the years 1990–1993. These figures were compared with those derived by applying published age specific prevalences to the maternal age distribution in England and Wales. Results— It is estimated that only 48% and 46% respectively of Down's syndrome live births and terminations of pregnancy were notified to ONS between 1990 and 1993. The annual expected birth prevalences of Down's syndrome obtained by applying maternal age specific prevalences to the maternal age distribution were in close agreement with observed rates from NDSCR. Conclusions— There is considerable underreporting of Down's syndrome births and terminations to ONS. The NDSCR data are more complete and therefore the effects of screening should be monitored using data from this source, or using estimates derived from the age specific rates of Down's syndrome.

scholarly journals Prevalence three ways: Comparison of linked data from a patient register and electronic health records with allowance for linkage error

2019 ◽  
Vol 4 (3) ◽  
Author(s):  
James Doidge ◽  
Joan Morris ◽  
Katie Harron ◽  
Sarah Stevens ◽  
Ruth Gilbert
Keyword(s):  
Linked Data ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Bias Analysis ◽  
Health Records ◽  
Live Births ◽  
Linkage Error ◽  
Quantitative Bias Analysis ◽  
Over Time

Background with rationalePatient registers and electronic health records are both valuable resources for disease surveillance but can be limited by variation in data quality over time. Variation may stem from changes in data collection methods, in the accuracy or completeness of clinical information, or in the quality of patient identifiers and the linkage that relies on these. Main AimBy linking the National Down Syndrome Cytogenetic Register (NDSCR) to Hospital Episode Statistics for England (HES), we aimed to assess the quality of each and establish a consistent approach for analysis of trends in prevalence of Down’s syndrome among live births in England. Methods/ApproachProbabilistic record linkage of NDSCR to HES for the period 1998–2013, supported by linkage of babies to mothers within HES. Comparison of prevalence estimates in England using NDSCR only, HES data only, and linked data. Capture-recapture analysis and quantitative bias analysis were used to account for potential errors, including false positive diagnostic codes, unrecorded diagnoses, and linkage error. ResultsAnalyses of single-source data indicated increasing live birth prevalence of Down’s syndrome, particularly steep in analysis of HES. Linked data indicated a contrastingly stable prevalence of 12.3 cases per 10,000 live births, with a plausible range of 11.6–12.7 cases per 10,000 live births allowing for potential errors. Conclusion Case ascertainment in NDSCR improved slightly over time, creating a picture of slowly increasing prevalence. The emerging epidemic suggested by HES primarily reflects improving linkage within HES (assignment of unique patient identifiers to hospital episodes). Administrative data are valuable but trends should be interpreted with caution, and with assessment of data quality over time. Linked data with quantitative bias analysis can provide more robust estimation and, in this case, reassurance that prevalence of Down’s syndrome is not increasing. Routine linkage of administrative and register data can enhance the value of each.

scholarly journals Multiple Chromosomal Aberrations in a Patient with Acute Granulocytic Leukemia Associated with Down's Syndrome and Twinning

Blood ◽  
1964 ◽  
Vol 24 (2) ◽  
pp. 134-159 ◽  
Author(s):  
KOSMAS A. KIOSSOGLOU ◽  
ERNEST H. ROSENBAUM ◽  
W. J. MITUS ◽  
WILLIAM DAMESHEK ◽  
Carol Sheehan
Keyword(s):  
Chromosomal Aberrations ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Leukemic Cell ◽  
Parental Age ◽  
Modal Number ◽  
X Ray ◽  
G 21 ◽  
The Family ◽  
Granulocytic Leukemia

Abstract 1. A case of Down's syndrome (G 21 trisomy) in a boy, age 4, associated with twinning and AGL is described. Multiple chromosomal aberrations were found prior to and during antileukemic chemotherapy. 2. The initial modal number ranged from 47 to 53 and subsequently 49 to 53, and 42 to 52 chromosomes respectively. The overwhelming leukemic cell population was represented by 51 chromosomes on three occasions (74.2, 80 and 79.5 per cent respectively). 3. The autosomal aberrations—trisomies and polysomies—were constant, involving predominantly the chromosomes of the G, F and D series. 4. Heterokaryotic twinning with one normal and one affected was encountered twice in this family (G 21 trisomy and normal) and (normal and mentally affected) sets of twins. 5. A possible tendency to nondisjunction has been demonstrated in three healthy members of the family. 6. Multiple mitotic nondisjunction anomalies might be of etiologic importance in the leukemic process. 7. The implication of different injurious agents and factors, such as ionizing radiation, x-ray exposure, chemicals and parental age in the development of trisomic syndromes and/or neoplasia are briefly discussed.

Sign in / Sign up

Export Citation Format

Share Document