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1,879 Possible Causes for Normal Karyotype

  • Chronic Neutrophilic Leukemia

    Most patients with CNL have normal karyotypes, and no specific cytogenetic abnormality has been identified.[] Analysis of colonies consisting of granulocytes and macrophages, macrophages, or erythrocytes disclosed a normal karyotype.[] The cytogenetic study showed that he had a normal karyotype. Concentrations of the serum granulocyte colony-stimulating factor (G-CSF) were not detectable.[]

  • Klinefelter Syndrome

    karyotype.[] Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome.[] karyotype (NK group).[]

  • Gonadoblastoma

    Less than 10 cases have been reported with normal 46XX karyotype. Only six cases of GBY have been described in pregnant women.[] Most patients have 46XY karyotype or various forms of mosaicism [ 2 ]. However, rare cases with normal 46, XX karyotype have been reported.[] "Gonadoblastoma progressing to dysgerminoma in a 55-year-old woman with normal karyotype". Pathology . 39 (2): 284–5. doi : 10.1080/00313020701230708 . PMID 17454768 .[]

  • Mayer-Rokitansky-Küster-Hauser Syndrome

    […] of secondary sexual characteristics and a normal karyotype.[] Renal anomalies were the most frequent associated malformations, and most of the patients presented with a normal karyotype.[] Genetic evaluation of these patients revealed normal karyotype i.e. 46,XX.[]

  • Acute Myelocytic Leukemia

    Chromosomal analysis of the bone marrow revealed a normal male karyotype. Subsequently, the myelodysplastic syndrome progressed to acute myelocytic leukemia.[] ., t(8;21) inv(16), t(16;16), and del(16)]; (b) normal; and (c) other abnormality karyotype.[] The patient with CMML had a normal karyotype, and she was treated with hydroxyurea and supportive therapy.[]

  • Alobar Holoprosencephaly

    The karyotype of the proband was normal, 46,XX.[] Alobar holoprosencephaly and otocephaly in a female infant with a normal karyotype and placental villitis. Statistics from This is a PDF-only article.[] Karyotyping by G-banding of amniocentesis specimens in normal twin and fetal umbilical blood in both fetuses showed 46, XY.[]

  • Myelodysplasia

    High – – 1) Platelets 100.000/µl, Hemoglobin 10 g/dl, ANC 1.800/µl 2) Low risk normal karyotype, 5q-, 20q-, -Y High risk complex karyotype ( 3 anomalien), chromosom 7-anomalies[] Patients with single del(12p) had a similar survival to patients with a normal karyotype and showed some trend for a better survival than other cases belonging to the IPSS[] We report the case of a 66-year-old male patient diagnosed with refractory anemia with excess blasts-2 with fibrosis (MDS RAEB-2-F) with a normal karyotype and negative findings[]

  • Ovarian Dysgenesis

    Both siblings had a 46,XX karyotype, and the maternal alpha-fetoprotein level was within normal limits.[] Peripheral blood samples revealed normal 46,XX karyotype for both patients. No gonads were visualized by ultrasonography.[] Acronym ODG1 Synonyms Gonadal dysgenesis XX type Hypergonadotropic ovarian dysgenesis autosomal recessive Hypergonadotropic ovarian dysgenesis with normal karyotype Hypergonadotropic[]

  • Pallister-Killian Syndrome

    Chromosome analysis on peripheral lymphocytes of the newborn also showed a normal karyotype.[] Moreover, diagnosis of Pallister-Killian Syndrome (PKS) is difficult because the ratio of abnormal to normal karyotyping is much lower in peripheral lymphocytes than in skin[] Although analysis of peripheral blood lymphocytes usually reveals a normal karyotype, an isochromosome 12p mosaicism is detectable in fibroblast cultures; therefore, in this[]

  • Gonadal Dysgenesis

    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[] If karyotype reveals a 46XY gonadal dysgenesis, these patients need the careful follow-up to screen for gonadoblastoma in remaining normal testis.[] PATIENT(S): Thirty-two patients with hypergonadotropic hypogonadism, streak gonads, internal and external female genitalia, and normal karyotype (46,XX or 46,XY); 31 were[]

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