All Stories

  1. A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature
  2. Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review
  3. Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?
  4. Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup
  5. A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?
  6. 3p26.3 terminal deletions: a challenge for prenatal genetic counseling
  7. A 14.8 Mb 12p Deletion Disrupting ETV6 in a Patient with Myelodysplastic Syndrome
  8. Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
  9. 15q duplication and epilepsy
  10. A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role forMBNLI
  11. Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication
  12. Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature
  13. 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
  14. A 17q duplication prenatally detected
  15. Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
  16. EML4-ALK translocation in both metachronous second primary lung sarcomatoid carcinoma and lung adenocarcinoma: A case report
  17. A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism
  18. An idic(15) associated with POF (premature ovarian failure): Molecular cytogenetic definition of a case and review of the literature
  19. Acro-cardio-facial syndrome: A microdeletion syndrome?
  20. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
  21. Characterization of a complex rearrangement of a chromosome 20 by FISH and array CGH
  22. Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure
  23. Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2)
  24. An unusual pattern of B-cell immunological reconstitution after allogeneic stem cell transplantation: A possible correlation with CMV reactivation?
  25. Molecular cytogenetic characterization of a translocation t(13;22)(q22.3;q11.23) in a patient with idiopathic partial epilepsy
  26. Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient
  27. Ring chromosome 21 and reproductive pattern: a familial case and review of the literature
  28. N,N,N-Trimethylglycine (Betaine) Improves Analysis of CDR3 Diversification in Children Reconstituting Their Immune Repertoire After Hematopoietic Stem-Cell Transplantation
  29. Mosaic ring Y chromosome in two normal healthy men with azoospermia
  30. Isolated 6q terminal deletions: An emerging new syndrome
  31. VH3 and VH6 Immunoglobulin M Repertoire Reconstitution after Hematopoietic Stem-Cell Transplantation in Children
  32. Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man
  33. Remarkably similar antigen receptors among a subset of patients with chronic lymphocytic leukemia
  34. Remarkably similar antigen receptors among a subset of patients with chronic lymphocytic leukemia
  35. B Cell Chronic Lymphocytic Leukemia
  36. Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient
  37. Non-identical twin sisters concordant for Langerhans cell histiocytosis and discordant for secondary acute promyelocytic leukemia
  38. Rapid detection of γT cell receptor gene rearrangements in acute lymphoblastic leukemia by electrophoresis and silver staining: Implications for detection of minimal residual disease
  39. Ciliary reversal ofParamecium primaureliamating type I and mating type II cells
  40. 233 PREFERENTIAL USAGE OF INCOMPLETE REARRANGEMENTS IN PRECURSOR B-ACUTE LYMPHOBLASTIC LEUKEMIA (B-ALL)