A Case of Trisomy 22 in a Live Hereford Calf

A case of the rare genetic trisomy 22 in a live calf is described. The calf had low blood thyroxine level and low growth rate. It had several defects including brachygnathia superior, strabismus convergence, aortal cusp insufficiency and hypertrophy of clitoris. Chromosome analysis was performed on cultured blood lymphocytes and fibroblast cells. In all counted metaphases 61 chromosomes were present. The extra chromosome was identified as a chromosome 22 by R-banding. The defects of the calf have similarities with cases of partial trisomy 3p25-pter in human. This section of the human chromosome 3 corresponds to sections of cattle chromosome 22.     

Offspring of a trisomic cow

A cow, trisomic for chromosome 22, became pregnant and gave birth to a karyotypically normal and healthy calf. Thus, a second example of reproductive capability in autosomal trisomies in mammals, in addition to trisomy 21 in man, is provided.     

Partial trisomy 8q and partial monosomy 18p: a case report

We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient.     

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization

This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases' had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized.     

Ineffectivity of accessory bisatellited marker chromosomes in inducing meiotic nondisjunction

It has been postulated that accessory marker chromosomes, which frequently show satellites, are effective in inducing meiotic nondisjunction in the carrier. This hypothesis has been tested by comparing expectations derived from it with actual data. Due to the discrepancies between these expectations and actual observations this hypothesis does not hold true: The frequency of trisomy 21 in the offspring of a carrier of an accessory bisatellited marker chromosome cannot be shown to be actually increased, and there is no increase of either the rate of miscarriages to such carriers or the frequency of an accessory marker chromosome among the individuals with regular trisomy 21. This indicates that the risk of trisomy in the offspring of a carrier of an accessory marker chromosome corresponds to the overall incidence of this trisomy.     

A new recurring chromosome 13 abnormality in two older patients with de novo acute myeloid leukemia: An Indian experience

We report here two cases of trisomy 13 in acute myeloid leukemia M1 subtype. short-term unstimulated bone marrow and peripheral blood lymphocyte culture showed 47, XY, +13 in all metaphase plates and trisomy 13 was confirmed with whole chromosome paint probes. Trisomy 13 in AML-M1 is a rare numerical abnormality. This is the first Indian report of sole trisomy 13 in AML-M1. Here, we present two cases of elder male patients, which may constitute a distinct subtype.     

Viability of trisomy 12 cells in mouse chimaeras

Summary Mouse aggregation chimaeras consisting of trisomy 12 and normal euploid cells were produced. The analysis of one trisomy 12euploid chimaera, using biochemical and cytological markers, showed that the trisomic cells were able to participate in the formation of most tissues including the ovary. On the other hand, no trisomy 12 cells were found in lymphocyte populations, which is most likely due to early selection in this particular cell lineage. The viability of two adult trisomy 12 chimaeras demonstrates that trisomy 12 cells are able to develop beyond the fetal stage which is not observed in completely trisomic fetuses.Furthermore, these chimaeras did not show any sign of a trisomy 12 syndrome, indicating that the trisomy 12 cells were functionally integrated and participated normally in the differentiation of the various tissues. Our results suggest that trisomy 12 in the mouse is not autonomously cell lethal but can be rescued and is perfectly viable in the presence of normal diploid cells.This article is dedicated to the memory of Prof. A. Gropp     

Trisomy 17 in a baboon (Papio hamadryas) with polydactyly, patent foramen ovale and pyelectasis

Trisomy 13 in humans is the third most common autosomal abnormality at birth, after trisomy 21 and trisomy 18. It has a reported incidence of between 1:5,000 and 1:30,000 live births. It is associated with multiple abnormalities, many of which shorten lifespan. We describe here the first reported case of a baboon (Papio hamadryas) with trisomy of chromosome 17, which is homologous to human chromosome 13. The trisomic infant was born to a consanguineous pair of baboons and had morphological characteristics similar to those observed in human trisomy 13, including bilateral polydactyly in the upper limbs, a patent foramen ovale, and pyelectasis. Molecular DNA analysis using human chromosome 13 markers was consistent with the affected infant inheriting two copies of chromosome 17 derived from the same parental chromosome. This trisomy was, therefore, due to either an error in meiosis II or the result of postzygotic nondisjunction. The parental origin, however, could not be determined.     

Report of a trisomy 8p infant with carrier father.

This report describes an infant with fatal congenital heart disease, cleft palate, brain malformations, and trisomy 8p resultant from the paternal balanced reciprocal translocation, rcp(8;15) (p11;p11). Review of six previously reported trisomy 8p patients (resultant from parental balanced translocation in each instance) revealed severe mental retardation in five, short stature in all, and a variety of brain, skeletal, and cardiac defects. The features of the seven trisomy 8p patients reviewed here are not sufficiently similar to suggest a distinct dysmorphic syndrome. In addition the features differ from those in the trisomy 8 mosaicism syndrome, in which the mental retardation and malformations are generally less severe.     

Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome)

Summary A patient with the phenotype of trisomy 21 (Down syndrome) was found to have a normal karyotype in blood lymphocytes and fibroblasts. Assessment of the chromosome 21 markers SOD1, CBS, ETS2, D21S11, and BCEI showed partial trisomy by duplication of a chromosome segment carrying the SOD1, CBS, and ETS2 loci and flanked by the BCEI and D21S11 loci, which are not duplicated. This submicroscopic duplication at the interface of 21q21 and 21q22.1 reduces to about 2000–3000kb the critical segment the trisomy of which is responsible for the phenotype of trisomy 21.     

Prenatal diagnosis of trisomy 21: registration results from a single genetic center

This is a retrospective review of all collected amniotic fluid samples, chorionic villus samples and other fluid-aspirations (hygroma colli fluid/urine from megacystis) over an 11-year period (1996-2006) in a single Genetic Center (University Hospital Gasthuisberg, Leuven), looking at the prenatal diagnosis of trisomy 21. In this study a total of 404 diagnoses of trisomy 21 were made on 29696 samples (1.4%). The prenatal diagnosis of trisomy 21 increased over the years with 0.88% (21/2363) in 1996 and 1.99% (50/2512)in 2006. Also the type of invasive testing changed over the years with an increase of the proportion of trisomy 21- diagnoses by chorionic villussampling from 2001. Looking at the registry for perinatal activities in Flanders for the year 2006 the live birth incidence for trisomy 21 was 1/1782 and this is lower than the often reported incidence oftrisomy 21 at birth of 1/800: it is likely that the use of more sensitive screening methods for the prenatal detection of trisomy 21 and the election of termination for most affected pregnancies affects the birth incidence oftrisomy 21.     

Telomeres in trisomy 21 amniocytes

Individuals with trisomy 21 have an increased risk of developing leukemia and premature dementia. They also have a higher rate of telomere loss. The aim of the study was to compare telomere length and the hTERC gene copy number, which encodes the telomerase RNA subunit, in amniocytes of trisomy 21 conceptions and normal pregnancies. A quantitative fluorescence-in-situ protocol (Q-FISH) was used to compare telomere length in amniocytes cultured from 11 trisomy 21 conceptions and from 14 normal pregnancies. Quantification was conducted using novel computer software. Fluorescence in situ hybridization (FISH) was used to assess the percentage of cells with additional copies of hTERC. We found that the immunofluorescence intensity, which represents telomere length, was significantly lower in amniocytes from trisomy 21 conceptions compared to the control group. The trisomy 21 group had a higher number of cells with additional copies of hTERC. This observation could be one of the cytogenetic parameters that represent a state of genetic instability and might play a role in the pathomechanism of typical features of Down syndrome, such as dementia and malignancy.     

Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.

This report deals with a reciprocal t(10;21) translocation which is observed in three generations of a family. Included are examples of the balanced translocation, adjacent-2 segregation producing three patients with trisomy of the distal long arm of chromosome 21 and the Down syndrome, and 3-1 disjunction producing trisomy of the proximal segment of chromosome 21 in a mildly mentally retarded boy without phenotypic features of the Down syndrome. These data provide evidence that the Down phenotype is attributable to trisomy of the distal long arm of chromosome 21.     

Double trisomy in spontaneous abortions

Cytogenetic data on products of conception from spontaneous abortions studied over a 10-year period have been reviewed for double trisomies. A total of 3034 spontaneous abortions were karyotyped between 1986 and 1997. Twenty-two cases with double trisomy, one case with triple trisomy, and a case with a trisomy and monosomy were found. The tissues studied were mostly sac, villi, or placenta. The gestational age ranged from 6 to 11 weeks and the mean age was 8.2 ± 1.7 (SD) weeks. The mean maternal age in years was 35.9 ± 5.3. Of the twenty-two cases, four were mosaics. All but two of the cases involved autosomal aneuploidies. The double trisomies included chromosomes 2, 4, 5, 7, 8, 12, 13, 14, 15, 16, 17, 18, 20, 21, and 22. The chromosomes that were trisomic in more than one double trisomy case were numbers 16 (8 cases), 8 (5 cases), 15 (4 cases), 2, 13, and 21 (3 cases each), and 5, 7, 14, 18, 20, 22, and X (2 cases). The triple trisomy involved chromosomes 18, 21, and X. The monosomy and trisomy case was a mosaic, with a monosomy 21 in all cells and some cells also with a trisomy 5. The double trisomies cited for the first time in this study were 4/13, 5/16, 8/14, 8/15, 14/21, 15/20, and 7/12. The pooled mean maternal age for double trisomy cases (34.1 ± 5.7 years) was higher than that for single trisomy cases (31 ± 6.1 years). The difference was statistically significant at P = < 0.001. The pooled mean gestational age of spontaneous abortions was lower for double trisomy (8.7 ± 2.2 weeks) than for reported single trisomy cases (10.1 ± 2.9 weeks). This difference is also statistically significant at P = < 0.001. The sex ratio among double trisomies was 15 females to 13 males. This difference was not statistically significant from the expected 1 : 1. Received: 27 June 1997 / Accepted: 4 September 1997     

Does the karyotype of a spontaneous abortion predict the karyotype of a subsequent abortion? Evidence from 273 women with two karyotyped spontaneous abortions.

At least two spontaneous abortions were karyotyped in 273 women during cytogenetic surveys in New York City and Honolulu. These pairs were analyzed using maximum-likelihood logistic-regression analysis to adjust for maternal age and location. There was a significantly increased risk for a chromosomally normal spontaneous abortion after a previous abortion with a normal karyotype. There was no increased risk for trisomy in a second spontaneous abortion following either a previous trisomic abortion or an abortion with another abnormal karyotype. This is unexpected, given the increased risk for trisomy found among live births and at prenatal diagnosis in young women with a previous trisomic birth. The most likely explanation is that the increased recurrence risk for trisomy is restricted to trisomy for only one or a few chromosomes, for reasons such as parental trisomy mosaicism. These data predict no increased risk of chromosome abnormality in future pregnancies after either (1) spontaneous abortions with trisomies of a kind that are always lethal in utero or (2) multiple early abortions in the presence of normal parental karyotypes.     

Survival of trisomy 18 cases in Japan

The prognosis of trisomy 18 is lethal, but recently some long-term survival cases have been recognized. We report here the mortality rate of trisomy 18 based on our hospital data and sporadically published reports in Japan. We collected the 7 previously published reports of mortality and 31 cases from our hospital data with trisomy 18. Our data pool comprised a total of 179 cases of trisomy 18 from 8 institutions. The mortality rates within 24 hours, 7, 28, 60, 180, and 365 days from birth were 14.84% (19/128), 31.01% (40/129), 56.25% (72/128), 64.08% (66/103), 82.17% (106/129), and 90.90% (140/154), respectively. Fourteen of the 154 patients (9.09%) survived for more than 1 year. The Kaplan-Meier survival curves from 78 patients of 5 institutes suggest that trisomy 18 children who have survived over 7 months after birth may have a high probability of long-term survival. We should recognize not only that about 50% of infants with trisomy 18 die within 1 month after birth, but also that about 10% of patients survive over 1 year in Japan. These findings comprise Asia's first clinical statistics concerning trisomy 18, in which the data were collected from multiple institutions. This evidence is valuable in order to perform genetic counseling concerning the natural history of trisomy 18 not only in Japan but also in other countries.     

Trisomy 16q21»qter

Summary A case of trisomy 16q secondary to a paternal 16/18 translocation is described. A comparison of this case with the few other cases of trisomy 16q described in the literature indicates that trisomy for the long arm of chromosome 16 results in a severely affected phenotype and early death. Conversely, patient with trisomy 16p do not have gross abnormalities. We postulate that the prenatal lethality of full trisomy 16 is mainly due to the trisomy for the long arm.     

Partial trisomy 15q1

Summary A supernumerary extra chromosome of maternal origin, precisely described from QM- and C-banding patterns, was studied in a mentally defective boy with a severe convulsive disorder. This case is considered to represent a specific phenotype of trisomy 15q1. The suggestion that in cases of partial trisomy 15q different phenotypes are due to the second chromosome involved in interchange is supported by the observation of a tertiary trisomy in 2 sibs. It resulted from a balanced reciprocal translocation in the mother t(8q+15q-) and caused an unusual malformation syndrome (mental deficiency, cleft lip and palate, funnel chest, hypospadias).     

Gene expression variation increase in trisomy 21 tissues

Congenital development disorders with variable severity occur in trisomy 21. However, how these phenotypic abnormalities develop with variations remains elusive. We hypothesize that the differences in euploid gene expression variation among trisomy 21 tissues are caused by the presence of an extra copy of chromosome 21 and may contribute to the phenotypic variations in Down syndrome. We used DNA microarray to measure the differences in gene expression variance between four human trisomy 21 and six euploid amniocytes. The three publicly available data sets of fetal brains, adult brains, and fetal hearts were also analyzed. The numbers of euploid genes with greater variance were significantly higher in all four kinds of trisomy 21 tissues (p < 0.01) than in the corresponding euploid tissues. Seventeen euploid genes with significantly different variance between trisomy 21 and euploid amniocytes were found using the F test. In summary, there is a set of euploid genes that shows greater variance of expression in human trisomy 21 tissues than in euploid tissues. This change may contribute to producing the variable phenotypic abnormalities observed in Down syndrome.     

Trisomies 13 and 18: prenatal diagnosis and epidemiologic studies in Hawaii, 1986-1997

Using a birth defects registry, this study examined the influence of prenatal diagnosis and elective termination of pregnancy on trisomy 13 and trisomy 18 prevalence in Hawaii between 1986 and 1997. The investigation also evaluated the impact of various demographic factors on risk for the aneuploidies. Forty-seven cases of trisomy 13 and 116 cases of trisomy 18 were identified. The total prevalence of trisomy 13 was 1.91 per 10,000 births and of trisomy 18 was 4.71 per 10,000 births. Elective terminations accounted for 38.3% of trisomy 13 cases and 48.3% of trisomy 13 cases. The 1-year mortality rate for trisomy 13 was 89.5% and for trisomy 18 was 74.3%. Rates for both aneuploidies increased during the time period. The racial/ethnic group with the highest prevalence of both anomalies was Far East Asian. The aneuploidies were more common in metropolitan Honolulu than the rest of Hawaii. Demographic factors demonstrated differences in risk for trisomies 13 and 18, although most of these differences appeared to be due, at least in part, to differences in maternal age distribution. For the secular trend, increased prenatal diagnosis of the anomalies also contributed to the observed increase.