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6895 search results for:

Chromosomal Abnormality 

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  1. 09-11-2022 | Chromosomal Abnormality | OriginalPaper

    Chromosomal Abnormality, fetal/neonatal Death and Socioeconomic Status: A Prospective Cohort Study

    Children of people in a lower socioeconomic status are more prone to less optimal health status in general. This study shows household income lower than the national highest quartile is associated with a higher risk of chromosomal abnormalities in …

  2. 01-01-2022 | Acute Myeloid Leukemia | OriginalPaper

    Acute Promyelocytic Leukemia with t(2;3): An Unusual Additional Chromosomal Abnormality

    Acute promyelocytic leukemia is a distinct subset of acute myeloid leukemia with characteristic clinical, morphological and genetic features. The gene product PML-RAR alpha resulting from reciprocal t(15;17) translocation, plays a pivotal role in …

  3. Open Access 01-07-2020 | Chromosomal Abnormality | OriginalPaper

    Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality: a qualitative exploration

    Individuals carrying a balanced structural chromosomal abnormality are at risk for infertility and may produce gametes with an unbalanced karyotype. An unbalanced conceptus may lead to failure to implant; early or late miscarriage; or more seldom …

  4. Open Access 01-12-2018 | OriginalPaper

    Coexisting of bone marrow fibrosis, dysplasia and an X chromosomal abnormality in chronic neutrophilic leukemia with CSF3R mutation: a case report and literature review

    Chronic neutrophilic leukemia (CNL) is an extremely uncommon myeloproliferative neoplasm (MPN) characterized by sustained, mature neutrophilic leukocytosis, hepatosplenomegaly, and bone marrow granulocytic hyperplasia. The key diagnostic criteria …

  5. Open Access 01-12-2016 | OriginalPaper

    Coexistence of congenital diaphragmatic hernia and abdominal wall closure defect with chromosomal abnormality: two case reports

    Malformations associated with congenital diaphragmatic hernia (CDH) can influence the morbidity and prognosis of the affected neonate [ 1 ]. The combination of CDH and an abdominal wall defect (omphalocele or gastroschisis) is rare; some babies …

  6. Open Access 01-12-2016 | OriginalPaper

    Chromosomal abnormality of acute promyelocytic leukemia other than PML-RARA: a case report of acute promyelocytic leukemia with del(5q)

    Up to 40 % of patients with acute promyelocytic leukemia (APL) have an additional chromosomal abnormality other than PML-RARA [ 1 ], recognized as secondary cytogenetic abnormalities; +8 is the most frequent (10 %–15 %). The WHO 2008 criteria for …

  7. Open Access 01-12-2015 | OriginalPaper

    Clear cell sarcoma of the kidney with calcification and a novel chromosomal abnormality: a case report

    A 9-year-old male presented with a renal tumor that showed a cystic structure with calcification on computed tomography. A pathological analysis of the resected tumor suggested clear cell sarcoma of the kidney (CCSK). Thus, this patient suffered …

  8. 01-07-2014 | OriginalPaper

    A de novo Chromosomal Abnormality in Cri du Chat Syndrome

    Cri du Chat syndrome is caused by haploinsufficiency of the genes on the distal part of chromosome 5p. The disorder is characterized by intellectual disability and delayed development, microcephaly, low birth weight, and hypotonia in infancy [ 1 ].

  9. 01-05-2006 | Letter

    A novel chromosomal abnormality involving 2q37 in myeloid malignancies

  10. 01-09-2002 | OriginalPaper

    Numerical chromosomal abnormality in gastric MALT lymphoma and diffuse large B-cell lymphoma

    We investigated numerical chromosomal abnormalities, using the fluorescence in situ hybridization (FISH) method, in gastric mucosa-associated lymphoid tissue (MALT) lymphoma and diffuse large B-cell lymphoma (DLBL). We also compared the …

  11. 01-04-2002 | OriginalPaper

    T-Cell Prolymphocytic Leukemia With Hemorrhagic Gastrointestinal Involvement and a New Chromosomal Abnormality

    We report a case of T-cell prolymphocytic leukemia in a 56-year-old woman who exhibited hemorrhaging with gastric involvement as the first manifestation. This patient’s condition was diagnosed as T-cell prolymphocytic leukemia based on the …

  12. 01-01-2012 | OriginalPaper

    Comparison of chromosomal abnormality rates in ICSI for non-male factor and spontaneous conception

    First-trimester miscarriage is the most common complication of human reproduction with an incidence ranging between 50% and 70% of all conceptions [ 1 ]. Genetic defects, especially chromosomal abnormalities, are the most common causes of …

  13. 01-12-2000 | OriginalPaper

    Case report: autistic disorder and chromosomal abnormality 46, XX duplication (4) p12–p13

     We report an 18-year-old female with a diagnosis of DSM-IV Autistic Disorder and moderate to severe mental retardation who was discovered to have a previously undescribed chromosomal abnormality 46, XX, duplication (4) p12–p13. We discuss her …

  14. 01-02-2007 | OriginalPaper

    Congenital Aneurysm of the Muscular Interventricular Septum in Association with Cardiac Arrhythmias and a Chromosomal Abnormality

    We report a newborn with a congenital aneurysm of the muscular interventricular septum, a conduction system abnormality involving variable left and right bundle branch block, and an abnormality of the short arm of chromosome 20, This combination …

  15. 01-12-2007 | Report

    Translocation t(6;14) as the Sole Chromosomal Abnormality in Adenoid Cystic Carcinoma of the Base of Tongue

    We present an adenoid cystic carcinoma of the base of tongue in a 48-year-old male with a restricted chromosomal alteration by cytogenetic and spectral karyotypic analysis (SKY). SKY and G-banding analyses identified the t(6;14)(q25;q13) as the …

  16. 01-09-2012 | Report

    A rare chromosomal abnormality inherited from the mother in a boy conceived after intracytoplasmic sperm injection: a case report

    Couples rarely undergo a karyotype evaluation prior to either natural conception or receiving assisted reproductive technology (ART) if there is no history of abnormal pregnancy or other indicative signs. However, many chromosomal anomalies are …

  17. 01-05-2003 | OriginalPaper

    Clonal chromosomal abnormality induced by surgically retained foreign bodies: t(9;17)(q21;p13.3) in a textiloma

  18. 01-06-2012 | Report

    Translocation t(X;10)(p10;p10): a rare chromosomal abnormality in a new born female with acute myeloid leukemia

    Sex chromosomes are infrequently involved in patients with hematologic malignancies. In most instances, the abnormality is either duplication in the q arm or deletion and translocation involving the q13 and q24 regions. We report herein a rare …

  19. 01-05-2000 | OriginalPaper

    Multiple pelvoureteric diverticulosis in a 1-month-old infant with a del(10p) chromosomal abnormality presenting with UTI and VUR

    A 1-month-old girl with a del(10p) chromosomal abnormality presented with a febrile urinary tract infection. Radiographic voiding cystourethrography demonstrated bilateral vesicoureteral reflux and multiple pelvoureteric diverticula ranging in …

  20. 01-07-2005 | OriginalPaper

    A Novel Chromosomal Abnormality, t(6;10)(q27;q22), Found in a Polycythemic Potential Donor for Allogeneic Hematopoietic Stem Cell Transplantation

    A 59-year-old man was a potential donor for allogeneic hematopoietic stem cell transplantation and was found to be healthy but slightly polycythemic. The bone marrow was morphologically normal, but karyotyping of bone marrow cells showed …

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