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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper describes a case of Klinefelter's syndrome with 48,XXYY. Patient had mental retardation and dysmorfic face. Although mental retardation may be recognized early in life, it is difficult to establish a clinical diagnosis of Klinefelter's syndrome before puberty when small testes, gynecomastia and other phisical stigmata may become apparent.
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PMID:[Klinefelter's syndrome with 48,XXYY (author's transl)]. 60 9

In a study of nine Klinefelter syndrome patients obtained from a military population, all were found to have normal electroencephalograms (EEGs), all were clinically euthyroid, and had normal thyroid function test results. All had normal verbal and nonverbal IQs and no evidence of neurologic dysfunction on psychological testing. There was a high incidence of personality maladjustment as indicated by both the Minnesota Multiphasic Personality inventory and individual psychiatric evaluation. No particular personality pattern appeared typical for the group as a whole. Neurologic dysfunction, as manifest by EEG abnormality, mental retardation, or neuropsychological test deficits, and hypothyroidism are not necessarily associated with Klinefelter syndrome. Likewise, although the incidence of personality disorders may be strongly associated with this disorder, no specific personality type appears especially characteristic of the syndrome.
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PMID:Klinefelter syndrome in a military population. Electroencephalographic, endocrine, and psychiatric status. 126 76

The major concern of the national population policy in Taiwan in recent years has been to lower the incidence of hereditary diseases and mental retardation in the general population. It has been estimated that there are around 10,000 mentally retarded school children in Taiwan. If effective chromosomal screening can be extended to these children, some of the family members who are carriers of balanced chromosomal rearrangements may benefit from follow-up studies and genetic counseling. The present report is the result of a pilot study conducted from 1988 to 1991 to explore the possibility of chromosomal screening of mentally retarded school children in Taipei. A total of 871 blood samples were collected from 1,147 children registered in 46 schools or residing in homes for the retarded. Chromosomal analysis was successfully accomplished on 674 out of 871 blood samples. The following chromosomal abnormalities were observed: 28 Down's syndrome, four Klinefelter syndrome, one XYY, one triple X, 11 translocations, seven inversions, four mosaics, three duplications, one deletion and one with an extra marker chromosome. After follow-up cytogenetic analyses of 13 families with probands with structural chromosomal anomalies, three of these families were shown to have one or two carriers of balanced translocated chromosomes. It seems that the present screening system would not be practical or cost-effective if it were applied island-wide in the future.
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PMID:Chromosomal screening of mentally retarded school children in Taipei. 136 37

The developmental histories of two males who have 49 XXXXY Klinefelter syndrome are described. Now aged 16 and six, they have been followed since the ages of four and two, respectively. They have many of the typical physical characteristics described in the literature, but their mental retardation is not as severe as has been reported. Both are moderately delayed in their general development and their personalities and learning styles are more similar to XXY Klinefelter individuals. These two case studies demonstrate previously unreported potential in individuals with this disorder, and the authors discuss the implications of this finding.
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PMID:Developmental outcome in 49,XXXXY Klinefelter syndrome. 169 98

The case of recidivous sexual offender with genetically caused mental retardation and primary hypogonadism (Klinefelter's syndrome with karyotype 48, XXXY) is described. He was examined after sadistic abuse of a boy aged 13 that he had committed 19 years after performed testicular pulpectomy. Plasmatic level of testosterone was found 4x higher than mean level in men after orchidectomy. Histological examination of residual scrotal tissues proved that the source of androgens were hyperplastic nodules of extratesticular Leydig cells.
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PMID:Recidivous offence in sadistic homosexual pedophile with karyotype 48, XXXY after testicular pulpectomy. A case report. 177 31

Chromosome abnormalities with recognizable clinical manifestations including mental retardation, primary infertility or primary amenorrhea of unknown etiology, abnormal sex differentiation and abnormal sex development were surveyed in the general population of Sichuan. The results showed that the prevalence of chromosome diseases in Sichuan was 31.5 per 100,000 of the general population with almost equal frequencies for autosomal chromosome and sex chromosome diseases. The most frequent autosomal chromosome disease was Down syndrome. The prevalence was 14.2 per 100,000 for the total population, and there should therefore be 154,000 cases of Down syndrome in the whole of China with its population of 1,100 million people. The most frequent sex chromosome diseases were Turner syndrome and Klinefelter syndrome. The prevalences were 14.3 and 14.1 per 100,000 for females and males, respectively. The majority of autosomal chromosome diseases clustered in the younger age groups, while the highest detection rate of sex chromosome diseases was found in the age group of 25-35, and thereafter it decreased with age. The age distribution of the cases indicates that both autosomal and sex chromosome diseases reduce the lifespan of patients.
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PMID:The prevalence of chromosome diseases in the general population of Sichuan, China. 201 98

The present study describes the cytogenetic findings in cases suspected with chromosomal abnormalities, in cases of mental retardation, multiple congenital malformations, clinical features of Down's syndrome, Klinefelter's syndrome, Turner's syndrome, ambiguous sex, sterility, amenorrhea and history of repeated spontaneous abortions in couples. Cytogenetic studies were done in 144 of the total 205 cases. In all, 57 (39.58%) were shown to have chromosomal abnormality and of these, 34 cases (25.7%) were Down's syndrome. Sex chromosome abnormality was found in 19 cases (13.2%). The results confirm the significant contribution of chromosomal abnormalities in the genesis of mental retardation, and abnormal sexual development.
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PMID:Cytogenetic studies in a population suspected to have chromosomal abnormalities. 224 22

The authors report a patient affected with mental retardation, dysarthria, bilateral testicular hypoplasia and extensive ulcers of the lower limbs. Clinical study and laboratory tests revealed 48,XXYY syndrome. The authors confirm the importance of differential diagnosis from Klinefelter syndrome, illustrating the parameters and the pathology of both syndromes. They discuss the hypotheses concerning the pathogenesis of the ulcerations, and stress the importance of clinical and genetic characterization, leading to a differentiated prognosis of social capacity and prospect of working.
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PMID:A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. 238 88

A cytogenetic investigation was carried out among 200 mentally retarded boys in Greece for the detection of the fragile X [fra(X)] syndrome. Thirteen patients were found to carry fra(X) (6.5%). Of those, six boys had a history of familial X-linked mental retardation, two had the phenotype of the Martin-Bell syndrome, four had only mental retardation of unknown etiology, and one was a mentally retarded patient with Klinefelter syndrome. The remaining 187 boys were fra(X) negative. Our findings emphasize the importance of early identification of this syndrome in the diagnosis and prevention, through proper genetic counselling, of mental retardation.
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PMID:Martin-Bell syndrome in Greece, with report of another 47,XXY fragile X patient. 323 62

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.
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PMID:The XXXXY chromosome anomaly: report of three new cases and review of 30 cases from the literature. 422 22


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