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1.
49,XXXXY syndrome is a rare sex chromosome aneuploidy and characterized by mental retardation, skeletal defects, craniofacial anomalies and hypogonadism. The increased frequency of diabetes mellitus in patients with Klinefelter syndrome and other types of X-chromosome polysomy has been reported, but no cases of diabetes mellitus in adult with 49,XXXXY syndrome have been reported so far. We report an 18-year-old patient with 49,XXXXY syndrome accompanying diabetes mellitus. 相似文献
2.
André Kidszun Anne-Jule Fuchs Alexandra Russo Marius Bartsch Gabriele Frey-Mahn Vera Beyer Ulrich Zechner Oliver Bartsch Eva Mildenberger 《Gene》2012
A case of neonatal diagnosis of 49,XXXXY syndrome is presented. Clinical identification was prompted by a bilateral thickening of the radioulnar joints and X-ray imaging disclosing almost complete radioulnar synostosis. Conventional karyotyping was initiated and revealed a karyotype of 49,XXXXY. Previously reported neonatal symptoms such as low birth weight, muscular hypotonia, or genital malformations were absent in this case. Microsatellite analysis showed two different X chromosomes each present in two copies, supporting that the four X chromosomes had arisen from a nondisjunction in maternal meiosis I followed by a second nondisjunction involving both X chromosomes in meiosis II. Multidisciplinary follow-up was organised to ensure timely recognition of associated complications. Early awareness of the diagnosis may offer a potential benefit regarding outcome. 相似文献
3.
Joe Leigh Simpson Gilda Morillo-Cucci Melvin Horwith Frederick H. Stiefel Felix Feldman James German 《Human genetics》1974,21(4):301-308
Summary The cytogenetic study of a pair of identical, mentally-retarded twins with the chromosome complement 48,XXXY is reported, along with extensive clinical and endocrinological studies of one twin.The genetic and clinical features of 30 reported 48,XXXY individuals were summarized and compared to those of 47,XXY and 49,XXXXY individuals. For 47,XXY the mean maternal age clearly is increased; for 48,XXXY it appears definitely but only slightly increased; and for 49,XXXXY it may not be increased at all. Developmental defects, similar in type, appear to be progressively more marked when an additional 1, 2, or 3 X chromosomes are added to the normal male chromosome complement. 47,XXY individuals may be either normal in intelligence or mentally retarded, whereas severe mental retardation has been present in all those with the complements 48,XXXY and 49,XXXXY.The interesting suggestion of increased twining associated with poly-X male complements is noted.
Research supported by grants HD 04134, HL 09011, RR-47, AM-11105, and TIAM 53950-11 from the National Institutes of Health. 相似文献
Zusammenfassung Die cytogenetische Untersuchung eines Paares eineiiger, geistig zurückgebliebener Zwillinge mit dem Chromosomenstatus 48,XXXY wird dargestellt; bei dem einen Paarling konnten außerdem ausgedehnte klinische und endokrinologische Studien durchgeführt werden.Außerdem wurden die genetischen und klinischen Merkmale der 30 bekannten Fälle mit 48,XXXY dargestellt und mit denen von Patienten mit 47,XXY und mit 49,XXXXY verglichen. Bei Fällen mit 47,XXY ist das mütterliche Alter deutlich erhöht; bei 48,XXXY ist es eindeutig, aber nur leicht erhöht; es sieht so aus, als ob es für 49,XXXXY überhaupt nicht erhöht wäre. Defekte der Entwicklung, die dem Typ nach ähnlich sind, scheinen dem Ausmaß nach desto mehr ausgeprägt zu sein, je mehr X-Chromosomen zusätzlich bei dem normalen männlichen Chromosomensatz vorhanden sind. 47,XXY Individuen können entweder schwachsinnig sein oder eine normale Intelligenz haben; dagegen zeigten alle Fälle mit 48,XXXY und 49,XXXXY einen schweren Schwachsinn.Es wird die interessante Frage aufgeworfen, ob die Zwillingshäufigkeit bei Poly X-Männern erhöht ist.
Research supported by grants HD 04134, HL 09011, RR-47, AM-11105, and TIAM 53950-11 from the National Institutes of Health. 相似文献
4.
J. Elizondo G. F. Sáenz C. A. Páez M. Ramón M. García A. Gutiérrez M. Estrada 《Human genetics》1982,61(2):110-112
Summary H-Y antigen was examined in eight male patients with X polysomies, namely four patients with 47,XXY, one patient with 48,XXXY, two patients with 49,XXXXY, and one patient with the mosaic 47,XXY/49,XXXXY. In all patients the H-Y antigen titers were lower than in normal 46,XY males. However, a linear correlation between the number of additional X chromosomes and the reduction of H-Y antigen titers could not be demonstrated. Such a correlation would be expected if the gene for the repressor of H-Y antigen expression is active also on the additional X chromosomes. 相似文献
5.
M. Fraccaro Antonia Mayerová U. Wolf Erika Bühler J. Gebauer Simone Gilgenkrantz J. Lindsten F. Lo Curto E. M. Ritzen 《Human genetics》1982,61(2):135-140
Summary H-Y antigen was studied serologically on blood cells and cultured fibroblasts of patients with numerical aberrations of the sex chromosomes. As compared with normal males, patients with the karyotypes 48,XXXY and 49,XXXXY have reduced H-Y antigen titrs; a tendency toward reduced titers can also be detected in the 47,XXY Klinefelter syndrome. The existence of an intermediary titer was further substantiated by a quantitative absorption test applied to cells with the 49,XXXXY karyotype. It appears that in the presence of one Y chromosome, the H-Y antigen titer decreases with an increasing number of X chromosomes. In contrast, the H-Y antigen titer is increased if, at a given number of X chromosomes, the number of Y chromosomes is increased, as in the 47,XYY male. Consequently, patients with 48,XXYY chromosomes are in the male control range. The findings are interpreted under the hypothesis of a controlling or modifying influence of the sex chromosomes on the titer of H-Y antigen. 相似文献
6.
Summary A review of 569 male patients with X-chromosome polysomies (544 Klinefelter and 25 patients with other types of X-chromosome polysomy) is presented here. These patients were detected among the 77000 persons karyotyped in the Leuven cytogenetic center between the years 1966 and 1987. In the group of 544 Klinefelter patients special attention was paid to (1) the age at diagnosis, (2) social and marital status of the postpubertal males, (3) physical and intellectual abilities of the prepubertal boys, (4) delineation of the concurrence of Klinefelter syndrome and fragile X syndrome, and (5) the frequency of malignancies. In 25 patients with other X-chromosome polysomies (2 n48 chromosomes) genotype/phenotype correlation is reviewed, especially for the patients with 48,XXYY and 49,XXXXY karyotypes. Finally, double aneuploidy and rare structural X-chromosome aberrations are briefly discussed. 相似文献
7.
Summary A boy with 49,XXXXY karyotype is described with only mild mental retardation at 18 months. Physical abnormalities included patent ductus arteriosus, undescended testes, small penis, bilateral epicanthal folds, and incurved 5th digits with small middle phalanges. Literature review showed 7 previous cases of XXXXY patients with congenital heart disease. 23% of buccal cells showed 1 sex chromatin body; 26% showed 2 and 11% 3. Autoradiography demonstrated 3 heavily labelled X chromosomes. The heteropyknotic behavior of X Chromosomes in excess of one may provide some measure of protection against excessive numbers of X chromosomes, bence the relatively normal development of some XXXXY patients.This study was supported in part by research grant AM-02504 from the National Institute of Arthritis and Metabolic Diseases U.S. Public Health Service. 相似文献
8.
Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences 总被引:1,自引:1,他引:0
Summary We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin. 相似文献
9.
The majority of abnormal sex chromosome complexes in the male have been considered to be variants of Klinefelter''s syndrome but an exception should probably be made in the case of the XXXXY individual who has distinctive phenotypic features. Clinical, radiological and cytological data on three new cases of XXXXY syndrome are presented and 30 cases from the literature are reviewed. In many cases the published clinical and radiological data were supplemented and re-evaluated. Mental retardation, usually severe, was present in all cases. Typical facies was observed in many; clinodactyly of the fifth finger was seen in nearly all.Radiological examination revealed abnormalities in the elbows and wrists in all the 19 personally evaluated cases, and other skeletal anomalies were very frequent. Cryptorchism is very common and absence of Leydig''s cells may differentiate the XXXXY chromosome anomaly from polysomic variants of Klinefelter''s syndrome. The relationship of this syndrome to Klinefelter''s syndrome and to Down''s syndrome is discussed. 相似文献
10.
I Lorda-Sanchez F Binkert K G Hinkel H Moser W Rosenkranz M Maechler A Schinzel 《Human heredity》1992,42(3):193-197
The parental origin of the additional sex chromosomes in 8 cases with high-order sex chromosome polysomies was determined using DNA polymorphisms. The additional sex chromosomes were paternally derived in 3 48,XXYY cases, and maternal in origin in 1 48,XXXY case and 4 49,XXXXY cases. Thus, all extra chromosomes, within a particular patient, were always derived from only one parent. Their most likely origin was successive nondisjunction at the first and second meiotic division in one germ cell. The mechanism involved remains unclear, but appears to be independent of parental ages. 相似文献
11.
Dissanayake VH Bandarage P Pedurupillay CR Jayasekara RW 《Indian journal of human genetics》2010,16(3):164-165
Pentasomy 49,XXXXY is a rare sex chromosome disorder usually presenting with ambigous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. The incidence of the condition is estimated to be 1 in 85,000 male births. Previously, this condition was identified as a Klinefelter variant. The condition is suspected in a patient, by a combination of characteristic clinical findings, and the diagnosis is confirmed by chromosome culture and karyotyping. In the case we report here, the main presentation of ambiguous genitalia led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis. 相似文献
12.
M. L. Barr D. H. Carr J. Pozsonyi R. A. Wilson H. G. Dunn T. S. Jacobson J. R. Miller B. Chown 《CMAJ》1962,87(17):891-901
The most common sex chromosome complex in sex chromatin-positive males with Klinefelter''s syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants.Two male children with an XXXXY sex chromosome abnormality are described. The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal anomalies (including radioulnar synostosis), (2) hypogenitalism (hypoplasia of penis and scrotum, incomplete descent of testes and defective prepubertal development of seminiferous tubules), and (3) greater risk of severe mental deficiency.That the conclusions are based on data from a small number of patients is emphasized, together with the need for a cytogenetic survey of a large control or unselected population. 相似文献
13.
The present report summarizes the follow-up data from birth up to the age of 14 years in a male patient with Beckwith-Wiedemann syndrome and 47,XXY karyotype. 相似文献
14.
Summary A persistence of the embryonic type of mitotic cycle was found in postnatal strains with aneuploidy of sex chromosomes (45,X; 47,XXX; 49,XXXXX;47,XYY;49,XXXXY). Life-span and proliferating activity of the strains did not differ from those of diploid postnatal cells. 相似文献
15.
Bogdan Kałuzewski Danuta Podkul Irena Zaborowska Teresa Moruzgała Lucjusz Jakubowski 《Human genetics》1977,37(3):355-359
Summary A 3-year-old boy from twin pregnancy with the features of marked dystrophia from birth, deficient growth, considerable retardation of physical and mental development, numerous somatic defects, suspected congenital heart disease, and hypoplastic external genitalia, is reported. The 48,XXXX/49,XXXXY/49,XXXX,i(Yq) karyotype was diagnosed. The boy's brother, normally developed, had a 46,XY karyotype. It was found on the basis of serologic findings that the brothers were dizygotic twins. 相似文献
16.
Changes in chromosome positioning may contribute to the development of diseases related to X-chromosome aneuploidy 总被引:1,自引:0,他引:1
Petrova NV Yakutenko II Alexeevski AV Verbovoy VA Razin SV Iarovaia OV 《Journal of cellular physiology》2007,213(1):278-283
The radial positions of the centromeric regions of chromosomes 1 and X were determined in normal male fibroblasts (XY) and in fibroblasts from a patient with a rare case of XXXXY polysomy. The centromeric regions and presumably the whole territories of active X chromosomes were demonstrated to occupy similar, although not identical, positions in XY and XXXXY cells. The centromeres of inactive X chromosomes (Barr bodies) were located closer to the nuclear periphery as compared with the centromeres of active X chromosomes. In addition, it was established that the nuclear radial position of gene-rich chromosome 1 was changed in XXXXY cells as compared to normal XY cells. The data are discussed in the context of the hypothesis postulating that changes in nuclear positioning of chromosomal territories induced by the presence of extra copies of individual chromosomes may contribute to the development of diseases related to different polysomies. 相似文献
17.
Lavard L Sehested A Brock Jacobsen B Muller J Perrild H Feldt-Rasmussen U Parma J Vassart G 《Hormone research》1999,51(1):43-46
A 18-year clinical follow-up period in a male patient with a germline TSH-R gene mutation (Met453Thr) is described. Nonautoimmune thyrotoxicosis was diagnosed at the age of 7 months. The patient had exophthalmus, failure to thrive, advanced bone age and no goiter. Long-term antithyroid drug treatment (ATD) was necessary during childhood. At the age of 7 years he developed a goiter. Subtotal thyroidectomy was performed at the age of 9 years, followed by repeated ablative radiotherapy at the age of 9.5-13 years due to a toxic multinodular goiter. After 13 years ATD could be discontinued and the patient was euthyroid until 16 years of age, where L-thyroxine substitution had to be started. The exophthalmus diminished, and had disappeared at the age of 18 years, when CT scan of the orbit was performed. Conclusion: TSH-R mutation must be considered in early nonautoimmune thyrotoxicosis. A very aggressive treatment strategy is necessary. 相似文献
18.
Wang XL Dou JT Gao JP Zhong WW Jin D Hui L Lu JM Mu YM 《Neuro endocrinology letters》2012,33(3):265-267
Tumors originating from ectopic adrenal tissue are relatively rare. In this article, we describe a case with Cushing's syndrome caused by an ectopic adrenal adenoma. A 38 year-old male patient presenting with cushingoid appearance for 2 years was diagnosed to have ACTH-independent Cushing's syndrome based on endocrinological evaluation. Mutiple radiological examinations detected bilateral adrenal atrophy. When the images were investigated in a more expanded scope, a 3.0×3.5×5.3?cm mass was detected in the anterior of left renal hilum and left renal vein. The mass was successfully resected with intraoperative endoscopy and pathological evaluation revealed an ectopic adrenal tumor. It is suggested that when the endocrinlogically confirmed adrenal neoplasm could not be well and definitely localized, the possibility of ectopic adrenal should be presumed and further radiography examinations should extend to the field where ectopic adrenal usually presents. 相似文献
19.
Summary The chromosome replication pattern of a man with 49,XXXXY was analyzed using 3H-thymidine and autoradiography as well as BrdU and acridine orange. The former technique showed a highly irregular replication pattern; the latter revealed one early replicating X chromosome, and the other three more or less asynchronously replicating. Two hypotheses seem to explain best the abnormal phenotype of males with an XXXXY sex chromosome constitution: (1) The number of the always active regions (tip of Xp) and of the possibly always active regions (the Q-dark regions on both sides of the centromere) is increased from one to four. (2) The replication pattern of the late-replicating X chromosomes is highly asynchronous, which might affect the phenotype. The possibility that more than one X chromosome might remain active in some cells, an even more abnormal and obviously deleterious situation, is still open. 相似文献
20.
Ruchała M Szczepanek E Skiba A Czepczyński R Sowiński J 《Neuro endocrinology letters》2008,29(1):55-58
Thyroid hemiagenesis (TH) is a rare inborn anomaly, resulting from failure of one thyroid lobe development. It is usually detected incidentally during investigation of concomitant thyroid disorders. The reported patient first presented hypothyroidism at the age of 49, when Hashimoto's thyroiditis (HT) and left thyroid lobe agenesis was diagnosed. L-thyroxine (LT4) replacement therapy restored hormonal balance. Two years later, the patient developed features of Graves' hyperthyroidism. The antithyroid pharmacotherapy by thiamazole was used. However, due to severe side-effects it was discontinued, and radioiodine treatment was applied. Four months after 131I administration, symptoms of hypothyroidism appeared, so thyroid hormone substitution was reintroduced. The patient, whose observation period has now reached 5 years, under LT4 replacement therapy, remains both clinically and biochemically euthyroid. The described case displays a very rare coincidence of hypothyroidism due to HT converted into Graves' hyperthyroidism, accompanying TH. Each of these three entities, may influence the thyroid function in a different way, hence, systematic follow-up and individual therapeutic management is required. 相似文献