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Results for “XYY Karyotype”

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At least 19 recordsLinked to original sources
PubMed1987

[Post-phlebitic leg ulcers and XYY karyotype: fibrinolysis and androgenic function tests. Apropos of 3 cases].

Three patients with karyotype XYY who had presented with deep vein thrombosis and leg ulcers (plus pulmonary embolism in two of them) were investigated for: (1) androgens (plasma testosterone measurement, testosterone oestradiol binding globulin (TeBG) assay, GnRH 50 micrograms test), and (2) haemostasis by fibrinolysis tests (euglobulin lysis time and area, antigenic plasminogen activator assay before and after 10 min venostasis). Full evaluation of haemostasis failed to demonstrate the presence of circulating anticoagulant or of antithrombin III, protein C and protein S deficiencies. One patient had neither hormonal nor fibrinolytic abnormality. The other two patients shared some clinical features with male hypogonadism (gynoid morphotype in both, hypotrophy of the testes in one, gynaecomastia in the other). They also had hormonal disorders ("over-response" to the GnRH test in one case, elevated TeGB in the other case) and abnormalities of fibrinolysis (poor response to venostasis, high baseline level of plasminogen activator). Response to venostasis became normal after 3 months of treatment with percutaneous dihydrosterone 125 mg per day in the two patients with initially poor response. The mechanism of venous pathology in XYY subjects is discussed. A genetic defect not involving the fibrinolysis system is possible since fibrinolysis was normal in one patient; however, abnormal fibrinolysis may have been responsible for the venous pathology in the other 2 patients. The role played by abnormalities of fibrinolysis in the pathogenesis of deep vein thrombosis and leg ulcers is recalled, and the possible implication of these abnormalities in patients with XYY karyotype is emphasized.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1981

[Incidence of 47,XXY and 47,XYY karyotypes among the mentally ill who have committed antisocial acts].

A cytogenetic screening of 1868 mentally diseases criminals is performed. 5 man with abnormal karyotypes were found: 2 with the chromosome set 47,XXY; 1--with mosaicism 46,XY/47,XXY and 2--with karyotype 47,XYY. Total frequency of chromosome abnormalities was found to be 0.27% (XXY karyotype--0.16%, XYY--0.11%). Among tall mentally diseased criminals the frequency of XXY set was found to be 0.94%, and of XYY--1.89%. So among tall mentally diseased criminals the frequency of these abnormalities is higher. The frequency of karyotype abnormalities among mentally diseased criminals was not found to be higher than in total population.

Adolescent↗
PubMed1979

Prolonged P-R interval in a male with 47,XYY karyotype.

A 47,XYY male with an extremely prolonged P-R interval (0.42 sec) on the electrocardiograph is described. There was also a secondary R wave in lead V1. He had no past history of heart disease and no cardiac abnormality on physical examination.

Adolescent↗
PubMed1978

Two transsexuals with 47-XYY karyotype.

Previous reports of sexual orientation and gender identity in subjects with XYY karyotype are reviewed. Two patients seeking a change of sex operation and found to have an XYY karyotype are described. It is argued that an XYY karyotype may predispose to a disturbed gender identity and possibly to the development of the transsexual syndrome.

Adult↗
PubMed1998

47,XYY karyotypes and pervasive developmental disorders.

OBJECTIVE: The presence of a 47, XYY karyotype in boys with pervasive developmental disorders (PDDs) has rarely been described in the past. Herein, 2 boys with PDDs and a supernumerary Y chromosome are presented. METHODS: The case histories of the 2 patients are described along with the results of associated testing. The literature on psychosocial development as well as brain morphology and physiology in males with 47, XYY karyotypes is reviewed. RESULTS: Both boys had presentations typical of PDDs, one with autistic disorder and the other with PDD not otherwise specified. CONCLUSION: The finding that, in a clinic for children with developmental disorders, 2 of 40 male referrals had 47, XYY karyotypes suggests that the rate of this sex chromosome anomaly may be increased in PDDs. An extra Y chromosome may be related to abnormal brain development, which may, in turn, predispose vulnerable males to PDDs.

Adolescent↗
PubMed1978

Incidence of 47,XYY karyotype in a consecutive series of newborn males in Tokyo.

A series of 3545 newborn males, born consecutively at a maternity hospital in the western suburbs of Tokyo and with no detectable physical abnormalities, were studied for fluorescent Y-chromatin. Buccal cell smears from each infant were screened. Cases with ambiguous results were subjected to a second test by blood smears, which were found to be more reliable. After the second test, chromosomal analysis was carried out in five infants: three had a 47,XYY karyotype; one, the karyotype 46,XY-D,t(D:Y) (Iijima et al., in preparation); and one, a normal male karyotype. The XYY karyotype occurred in 0.11% of newborn males in this series.

Cheek↗
PubMed1992

Disproportionate short stature, type E brachydactyly and exostoses of tibiae in a patient with an XYY karyotype. A 'new' syndrome?

An 18-year-old male with an XYY karyotype is reported with short stature, normal intelligence and normal personality, in contrast to the XYY syndrome which can be characterized by tall stature, mental subnormality and aggressive behaviour. The patient, in addition, had exostoses of the tibiae bilaterally and type E brachydactyly; this association has not previously been described in patients with the XYY karyotype.

Adolescent↗
PubMed1992

[A molecular analysis of females with 46,XY or 47, XYY karyotype].

In this paper, 4 females of 46,XY and one of 47,XYY karyotype were studied by Southern blotting using 10 Y-DNA probes. The results showed that 3 cases of 46,XY and the one 47,XYY had not lost any Y-specific fragment, while one 46, XY had lost a 15 kb Y-specific fragment, as detected by pDP34. The cause of these 46,XY and 47,XYY karyotypes could not be explained by the theory of X-Y unequal exchange in meiosis. It was postulated that an alternative genetic mechanism, such as gene mutation or defective gonad receptor, might be related to sex reversion in these patients.

Adult↗
PubMed1978

Oligohydramnios syndrome and XYY karyotype.

A case of oligohydramnios syndrome was found to have an XYY karyotype and an inherited 9qh inversion. It is suggested that normal and extra Y chromosomes are a predisposing factor in the aetiology of severe congenital renal anomalies.

Amniotic Fluid↗
PubMed1985

A case of male pseudohermaphroditism with normal androgen receptor binding and 47,XYY karyotype.

A case of male pseudohermaphroditism with 47,XYY karyotype in blood and cutaneous fibroblasts is described. The plasma testosterone response to HCG stimulation was slightly below the normal range on two occasions suggesting a deficit of gonadal function. A study of the receptors for dihydrotestosterone in fibroblasts of genital and nongenital skin showed a normal concentration of receptors in genital skin; 5-alpha-reductase activity in fibroblasts of the genital skin was low, but the plasma relationship testosterone/dihydrotestosterone under HCG stimulation was normal. The diagnostic possibility of a complete testicular feminization syndrome with normal receptors for dihydrotestosterone is commented on.

Androgens↗
PubMed1998

47,XYY karyotype in acute myeloid leukemia.

A case of acute myelomonocytic leukemia (AMMoL; M4) with a 47,XYY karyotype is reported. This chromosome aneuploidy was found in both bone marrow cells and mitogen-stimulated lymphocytes. The contribution of XYY chromosomal constitution in the pathogenesis of AMMoL is controversial.

Humans↗
PubMed1978

Prenatal detection of the 47, XYY karyotype.

The ethical decisions involved before and after the prenatal diagnosis of a 47, XYY karyotype in the fetus of a 32-year-old woman are discussed. It was decided that the parents should be presented with all the known facts about XYY-associated abnormalities and allowed to choose whether pregnancy should continue; the physician's role would be to support them in their decision and help them carry it out.

Adult↗
PubMed1999

The origin of the extra Y chromosome in males with a 47,XYY karyotype.

The presence of an extra Y chromosome in males is a relatively common occurrence, the 47,XYY karyotype being found in approximately 1 in 1000 male births. The error of disjunction must occur either during paternal meiosis II or as a post-zygotic mitotic error, both of which are rare events for other chromosomes. It is therefore of interest to determine when errors of Y chromosome disjunction occur. It is possible to distinguish between the different mechanisms of non-disjunction by analysing DNA polymorphisms at the distal tip of the Xp/Yp pseudoautosomal region in 47,XYY males, their parents and in some cases paternal grandparents. A cohort of 28 non-mosaic 47,XYY males was analysed. The results show that there are at least two mechanisms causing non-disjunction of the Y chromosome. In 16 of the 19 cases from which parents were available, the extra Y was generated by non-disjunction at meiosis II after a normal chiasmate meiosis I. Three cases were due to either a post-zygotic mitotic error or non-disjunction at meiosis II after a nullichiasmate meiosis I. Of the nine cases with no parental DNA available, at least four were due to meiosis II non-disjunction following a normal chiasmate meiosis I.

Base Sequence↗
PubMed1977

Single case study. Behavioral treatment of boy with 47,XYY karyotype.

Controversy exists with regard to the genetic programmability of antisocial, aggressive behavior in males with 47,XYY karyotype. This study reports the reduction of disruptive behavior in a 7-year-old boy with this chromosomal anomaly. Behavioral manipulations of environmental contingencies were used to alter several types of problematic behaviors successfully. Theoretical and clinical implications with regard to the notion of genetic causality are discussed.

Behavior Therapy↗
PubMed1978

XYY karyotype, female phenotype and gonadal dysgenesis. A case report.

A rare association of female phenotype with the 47,XYY karyotype in a 14-year-old White girl is described. She was studied because of her short stature and proved to have gonadal dysgenesis. She showed no masculinization and there were no Turner stigmata. Her intelligence was normal, she was sociable and her outlook was feminine.

Adolescent↗
PubMed2001

47,XYY karyotype and normal SRY in a patient with a female phenotype.

A rare case of a female patient with a 47,XYY karyotype is described. She had normal female external genitalia, bilateral testes, rudimentary Fallopian tubes and no uterus. Molecular analysis revealed a normal SRY encoding sequence. The possible events in the etiology of this sex reversal entity are discussed.

Adolescent↗