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612 Possible Causes for normal male karyotype 46, xy

Did you mean: normal male karyotype, 46, xy

  • Klinefelter Syndrome

    This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation.[] The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY.[] In 1959, Jacobs et al recognized KS as a chromosomal disorder in which the patients had an extra X chromosome to a normal male karyotype, 46 XY (1). the most common karyotype[]

  • 45,X/46,XY Mixed Gonadal Dysgenesis

    Differential diagnosis The differential diagnosis should include 46,XY partial gonadal dysgenesis (46,XY PGD; see this term) and syndromic 46,XY gonadal dysgenesis (such as[] Mixed gonadal dysgenesis with normal karyotype: A rare case report. Indian J Pathol Microbiol 2010;53:313-5. [ PUBMED ] 2.[] The most common presentation of 45,X/46,XY karyotype is phenotypically normal male, next being genital ambiguity. [5] There is a range of chromosomal anomalies within 45,X[]

  • Gonadal Dysgenesis

    Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two thirds remain unexplained.[] All are sex chromatin negative and have a normal 46 XY male karyotype.[] We present a rare case of a left undescended testis, normally descended right testis, with penoscrotal hypospadias, who had a normal karyotype and whose histopathological[]

  • Gonadoblastoma

    The karyotype was 46,XY in peripheral blood lymphocytes and skin fibroblasts.[] Lymphocyte culture of peripheral blood for chromosome study revealed 46,XY normal male karyotype.[] Abstract 46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder.[]

  • 46,XY Disorder of Sex Development

    Patients with 46,XY DSD secondary to defects in androgen production show a variable phenotype, strongly depending of the specific mutated gene.[] male 46, XY karyotype.[] KEYWORDS: 46,XY DSD; 46,XY disorder of sex development; 9q33 Microdeletion; NR5A1; SF1 Publication types, MeSH terms, Substances, Grant support Publication types Case Reports[]

  • 46,XY Complete Gonadal Dysgenesis

    OBJECTIVE: To describe the surgical findings in two adolescents with 46,XY complete gonadal dysgenesis. DESIGN: Report of two cases.[] A karyotype was obtained and showed a normal male karyotype 46, XY.[] Definition A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.[]

  • Klinefelter's Syndrome with XY/XXY Mosaic

    Chromosome analysis from whole blood culture showed cells with 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY mosaicism.[] All children had a normal karyotype. Conclusion: Pregnancy can be achieved in KS patients’ families, using IVF/ICSI method.[] Mosaicism results in clinical variations in KFS as some of the cells have normal karyotype.[]

  • Female Gonadal Dysgenesis

    […] dysgenesis 46,XY XY pure gonadal dysgenesis XY female XY gonadal dysgenesis Can natural medicine help in Swyer syndrome?[] The mean height of the females with the 46,XY karyotype was 6.6 cm higher than that of the females with the 46,XX karyotype.[] Thus Swyer syndrome is referred to as PGD, 46,XY, and XX gonadal dysgenesis as PGD, 46,XX. [2] Patients with PGD have a normal karyotype but may have defects of a specific[]

  • 46,XX Disorder of Sex Development

    […] kb upstream of SOX9, designated XY sex reversal region (XYSR).[] Our patient has a 46,XX Karyotype, normal male phenotype and hypergonadotropic hipogonadism leading to infertility.[] […] showed normal male genitalia.[]

  • Trisomy 20

    He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY, r(20)/47,XY, 20. After birth, the abnormal cell lines were confirmed in a number of tissues.[] Fetal blood sampling showed a normal karyotype and no fetal, neonatal or infant abnormalities were observed.[] The karyotype of the newborn was 46,XY/47,XY, 20 in foreskin cultures and in a second skin culture; blood lymphocyte culture was 46,XY.[]

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