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Results for “Sex Chromosome Disorders”

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At least 19 recordsLinked to original sources
PubMed1997

[Disorders of sex chromosome].

Disorders of sex chromosome, X and Y, consist of abnormality of the number or structure of the sex chromosome. Because sex chromosomes have a variety of genes related to sexual differentiation, disorders of sex chromosome induce a variety of disorders of sexual differentiation. At first, in this title, the process of normal sexual differentiation is shown. Classical disorders of sex chromosome are Klinefelter syndrome, XX male, XYY male, Turner syndrome, XXX female, and XY female. True hermphroiditism, mixed gonadal dysgenesis, and pure gonadal dysgenesis are also included, because most of these disorders have abnormal sex chromosome. Molecular analysis of sex chromosome is clarifying disorders with a minute abnormality of sex chromosome. They include male infertility, premature ovarian failure, and fragile X syndrome. Explanations of the above disorders are given briefly.

Female↗
PubMed1981

Sex chromosome disorders.

A critical and comprehensive review of the major sex chromosome disorders. The introduction briefly outlines the cytogenetic background to these disorders and refers to earlier reviews. The paper then reviews the clinical and psychiatric aspects of the various chromosome disorders. Male and female phenotypes are dealt with separately, with emphasis on psychological and behavioural manifestations including antisocial behaviour. Medico-legal implications are also reviewed, as are the implications for research.

Body Height↗
PubMed1993

Chromosomal damage in lymphocytes of controls and patients with autosomal and sex-chromosomal disorders.

The frequency of chromosomal aberrations was studied in lymphocytes from karyotypically abnormal patients and normal donors. There was no difference between normal females and Down's syndrome female patients. Male Down's syndrome patients showed a significant increase in aberrations of normal diploid male lymphocytes and a significant difference was observed in male and female Down's syndrome patients. Sex-chromosomally abnormal patients, both X and Y chromosome deficient, showed elevated chromosomal aberrations compared with age and sex-matched normal diploid cells.

Adolescent↗
PubMed1991

Prenatal sexing and detection of ZFY gene sequences in sex chromosome disorders by polymerase chain reaction.

Specific amplification of a DNA segment of the human ZFY gene by polymerase chain reaction (PCR) was carried out for detection of Y-chromosome specific sequences. When male DNA was used as template for amplification, a single and discrete 530 bp ethidium bromide staining band was observed in agarose gel. Female DNA produced no band. This technique was successfully used in prenatal sexing and for detecting ZFY DNA sequences in five XX males, an XY female, and a female patient with Turner syndrome having mosaicism involving a minute marker chromosome.

Base Sequence↗
PubMed1980

Learning disorders and sex chromosome aberrations.

No sex chromosome aberrations were detected in a prospective study of twenty adult dyslexic men. A retrospective study of eighty-nine subjects with known sex chromosome aberrations revealed twenty of them to be mentally-retarded. Among the sixty-nine subjects of normal intelligence, learning, speech and attention disorders were frequent. Children with 47,XYY, 47,XXY, and 47,XXX karyotypes appeared particularly prone to experience delays in speech development as well as later academic underachievement in language-related subjects. In contrast, speech development was normal in all of the girls with Turner's syndrome and later academic difficulties were usually confined to mathematics or science. Hyperactivity was noted with considerable frequency among 47,XYY and Turner's syndrome subjects, but not among subjects with a 47,XXX or 47,XXY karyotype.

Adolescent↗
PubMed2001

Exploring the complex relationship between adolescent sexual offending and sex chromosome abnormality.

The nature and importance of the relationship between sex chromosome abnormalities (SCAs) and sexual maladaptive behaviour is uncertain. When considering the aetiology of sexual offending behaviour, the importance of sex chromosome disorder lies in its biopsychological manifestations and in its complex interactions with external influences. At the Adolescent Forensic Service, in keeping with previous research in institutional settings, we found a higher pick-up rate of SCAs among sexual offenders (5/121) than would be expected in an unbiased community sample (1.2/1000 male livebirths; Jacobs et al. (1992)). We present descriptive data on five patients with SCAs out of a total of 121 sexual offenders who presented to the Adolescent Forensic Service over a 6-year period. We discuss the biopsychosocial features of these five patients and compare them with the remainder of the sexual offenders in the series. We discuss the advantages of early diagnosis and the need for professional vigilance by adolescent forensic psychiatrists, child and adolescent psychiatrists, paediatricians and clinical geneticists.

Adolescent↗
PubMed2004

49, XXXXY syndrome.

49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing.

Abnormalities, Multiple↗
PubMed2003

Association between Klinefelter syndrome and focal nodular hyperplasia.

Focal nodular hyperplasia is a benign lesion of the liver, predominantly affecting women. Its etiology is unknown. Elevated levels of estrogens have been invoked to play a role in the disease. Klinefelter syndrome is the most common sex chromosome disorder, characterized by 47, XXY karyotype, resulting in male hypogonadism and sex hormone imbalance. We present a case of a 25-year-old man affected by Klinefelter syndrome, admitted to our hospital for aspecific dyspeptic symptoms. During admission he underwent: blood test for the liver function and sexual hormonal status, ultrasonography, echo color power Doppler and computerized tomography scan of the liver, and liver biopsy. A hypergonadotropic hypogonadism was present. Imaging of the liver showed an hepatic lesion that liver biopsy confirmed to be a focal nodular hyperplasia. Although the association could be casual, the sex hormone imbalance present in Klinefelter syndrome may suggest a role in the development of this benign liver lesion.

Adult↗
PubMed1981

[Implications for genetic counselling in regard to sex chromosome aneuploidies diagnosed by amniocentesis (author's transl)].

It is in the detection of chromosomal aneuploidies that amniocentesis currently renders the greatest service. However, when an anomaly of the fetal sex chromosomes is found, the decision of what attitude to hold in counselling the parents poses a real dilemma, due to the importance of phenotypic variation-notably of intelligence and behavior-in individuals with sex chromosome disorders. It is in such situations that the need for information furnished by prospective studies is particularly evident. Prenatal diagnosis of four cases of sex chromosomal polysomy, detected in the course of approximately 600 amniocenteses, is presented, as are the criteria which may guide the parents in their decision to continue or to terminate a pregnancy so affected.

Amniocentesis↗