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210 Possible Causes for Normal Male Karyotype (46,XY)

Did you mean: Normal Male Karyotype, (46, XY)

  • Lymphoblastic Lymphoma

    A marrow aspirate and biopsy revealed normal trilineage hematopoiesis with no evidence of lymphoma and a normal male karyotype (46, XY).[ncbi.nlm.nih.gov] The bone marrow chromosome analysis showed the karyotype 46, XY, t(5;12)(q33;p13), which indicated presence of PDGFRB gene translocations.[ncbi.nlm.nih.gov] A marrow aspirate and biopsy revealed normal trilineage hematopoiesis with no evidence of lymphoma and a normal male karyotype (46, XY).[ncbi.nlm.nih.gov]

  • Bifid Nose

    No mental retardation was present, and a chromosomal study showed normal male 46, XY karyotype.[ncbi.nlm.nih.gov] No mental retardation was present, and a chromosomal study showed normal male 46, XY karyotype.[ncbi.nlm.nih.gov]

  • Persistent Hyperplastic Primary Vitreous

    Cytogenetics study by conventional culture technique using the CTG banding technique revealed a normal male karyotype 46, XY for both of them.[ncbi.nlm.nih.gov] Cytogenetics study by conventional culture technique using the CTG banding technique revealed a normal male karyotype 46, XY for both of them.[ncbi.nlm.nih.gov]

  • Gonadoblastoma

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

  • Multiple Congenital Anomalies

    Chromosomal analysis revealed a normal male karyotype with 46,XY. Skin biopsy was normal.[ncbi.nlm.nih.gov] Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY mar[34]/46,XY[31].[ncbi.nlm.nih.gov] The karyotype was demonstrated to be 46,XY,der(4), t(4;15)(q35;?),inv(9)(p13q13).[ncbi.nlm.nih.gov]

  • Hypospadias

    Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY.[ncbi.nlm.nih.gov] In this study, we report a 3-year-old boy with severe scrotal hypospadias with Robertsonian translocation [45,XY,t(13q;14q)].[ncbi.nlm.nih.gov] Diagnosis of 46,XY DSD was made at age 2.5 months.[ncbi.nlm.nih.gov]

  • Ring Chromosome 18

    In contrast, short-term and long-term cultured chorionic villi showed a normal male karyotype of 46,XY.[ncbi.nlm.nih.gov] The peripheral blood lymphocytes revealed a karyotype of 46,XY,r(18)[81]/45,XY,-18[3]/46,XY,idic r(18)[3]/46,XY[13].[ncbi.nlm.nih.gov] […] the normal male karyotype 46,XY.[journals.lww.com]

  • Beckwith-Wiedemann Syndrome

    Echocardiography revealed a normal heart, while karyotyping by amniocentesis demonstrated normal male karyotype (46,XY).[scielo.br] The final result confirmed a diagnosis of 46,XY,del(11)(q24.3q25),dup(11)(p14.3p15.5).[ncbi.nlm.nih.gov] According to ISCN (1995) the karyotype can be described as 46,XY,add(11)(q2?3). ish 11ptel(D11S2071x3),11qtel(VIJyRM2072x1).[ncbi.nlm.nih.gov]

  • Infertility

    Cytogenetic analysis of the couple showed a de novo chromosomal translocation t (2;11)(p14;q21) in the male partner and a normal 46, XX karyotype in the female counterpart[ncbi.nlm.nih.gov] Several mutations in NR5A1 have been reported to cause gonadal dysgenesis with adrenal insufficiency in individuals with 46,XY karyotype.[ncbi.nlm.nih.gov] Recently, a family was reported with a 178 kb duplication in the gene desert region ending about 500 kb upstream of SOX9 in which 46,XY duplicated persons were completely[ncbi.nlm.nih.gov]

  • Indolent Systemic Mastocytosis

    Conventional Cytogenetics Normal male karyotype 46,XY Molecular Kit (D816V) mutation testing by PCR – Insufficient nucleic acids to obtain valid result Differential Diagnosis[mplnet.com] Conventional Cytogenetics Normal male karyotype 46,XY Molecular Kit (D816V) mutation testing by PCR – Insufficient nucleic acids to obtain valid result Differential Diagnosis[mplnet.com]

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