Table 1.
Twenty years of cytogenetics molecular cytogenetics and molecular biology in Morocco
| Disease | Diagnosis method |
|---|---|
| Constitutional chromosomal abnormalities | Cytogenetic and molecular cytogenetics |
| Williams syndrome | Cytogenetic and molecular cytogenetics (FISH) |
| Digeorge syndrome | Cytogenetic and molecular cytogenetics (FISH) |
| Prader Willi and Angelman syndromes | Cytogenetics molecular cytogenetics and molecular biology (methylation status of 15q11.2) |
| Chronic myeloid leukemia | Cytogenetic and molecular cytogenetics |
| Chronic myeloid leukemia | Molecular biology of (BCR/ABL: by RT‐PCR) |
| Myeloproliferative syndromes | Molecular biology (V617F mutation in JAK2 gene) |
| Myelofibrosis with myeloid metaplasia, essential thrombocythemia | Molecular biology of (Exon 9 of CALR gene) |
| Familial Mediterranean fever | Molecular biology (MEFV gene) |
| Autosomal recessive Limb‐Girdle muscular dystrophy type 2C | Molecular biology (SGCG gene/525 delT mutation) |
| Muscular dystrophy Duchenne and Becker type | Molecular biology |
| Spinal muscular atrophy | Molecular biology |
| Deafness due to connexin 26 anomalies | Molecular biology of (GJB2 gene/35delG mutation) |
| Factor V Leiden mutation | Molecular biology |
| Beta‐thalassemia and hbb‐related diseases | Molecular biology of (Moroccan recurrent mutations) |
| Cystic fibrosis | Molecular biology of (Exon 10 of CFTR gene) |
| Attenuated familial adenomatous polyposis | Molecular biology of (MYH gene/Moroccan recurrent Mutations) |
| Mucopolysaccharidosis type 1 | Molecular biology of (IDUA gene/c.3233C>G mutation) |
| Glycogen storage disease type IA | Molecular biology of (Moroccan recurrent mutations) |
| Xeroderma pigmentosum | Molecular biology of (XPC gene/c.1643_1644delTG mutation) |
| Hyperoxaluria | Molecular biology of (AGXT gene/p.Ile244Thr mutation) |
| Achondroplasia and hypochondroplasia | Molecular biology of (FGFR3 gene) |
| Hemochromatosis | Molecular biology of (HFE gene: C187G and G845A mutations) |
| Male infertility | Molecular biology of Y chromosome deletions (AZF) |
| Nephronophtisis | Molecular biology of (recurrent deletion of NPHP1 gene) |
| Familial hypercholesterolemia | Molecular biology (Moroccan recurrent mutations) |
| Pharmacogenetics | Molecular biology analysis of IL28B gene |
| Molecular diagnosis of male infertility associated with large‐headed multiflagellar polyploid spermatozoa | Molecular biology (AURKC gene: c.144delC mutation) |