All Stories

  1. Deletion of the short arm of chromosome 20 in a girl with neurodevelopmental disorders
  2. Probable role of chromosomal polymorphisms in reproductive failure. Findings in the Panamanian population
  3. Reciprocal Translocations in Prenatal Diagnosis: Latin America Data
  4. Cytogenetic diagnosis of Pallister Killian syndrome
  5. Unusual chromosomal rearrangements detected by FISH in patients at high genetic risk
  6. Hypertrophic cardiomyopathy
  7. Chromosome 7 Isodisomy in a Child with Silver-Russell Syndrome
  8. Rearreglos cromosómicos complejos involucrados en la infertilidad masculina
  9. Cromosoma 22 en anillo en paciente con trastorno del neurodesarrollo
  10. Relación de los factores de riesgo de alteraciones cromosómicas con el resultado citogenético fetal en gestantes
  11. Chromosomal aberrations in patients with suspected Prader Willi syndrome
  12. La amplificación múltiple de sondas dependiente de ligación para el diagnóstico rápido de aneuploidías. Revisión sistemática
  13. Inusual ganancia en 9qh y su posible influencia en los trastornos reproductivos. A propósito de un caso
  14. DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2)
  15. 2q14 de novo interstitial deletion in a girl with intellectual disabilities and malformations
  16. Essentially pure partial trisomy 6(p21.31-p25) (case report and literature review)
  17. CYTOGENOMIC APPROACH TO COMPARATIVE ANALYSIS OF COHORTS OF CHILDREN SUFFERING FROM NEURODEVELOPMENTAL DISEASES
  18. Increased usage of Smartphones in Medicine, an opportunity for Medical Cytogenetics
  19. Diagnosis of patients with neurodevelopmental disorders
  20. High risk for carriers of de novo balanced structural chromosomal aberrations in prenatal diagnosis: Latin America data
  21. Familial translocation t(5;11)(q32;q23) resulting in Jacobsen syndrome and distal trisomy 5q31 in a female patient
  22. The applicability of interphase chromosome-specific multicolor banding (ICS-MCB) for studying neurodevelopmental and neurodegenerative disorders
  23. Antenatal Diagnosis of De Novo Balanced Structural Chromosomal Aberrations
  24. Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy
  25. Avoiding a second amniocentesis to corroborate prenatal diagnosis by using refrigerated samples*
  26. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome
  27. Antenatal Cytogenetic Testing in Havana, Cuba