Indications dans lesquelles le caryotypage reste supérieur aux techniques de diagnostic moléculaire :
Caractéristiques phénotypiques typiques d'un syndrome chromosomique spécifique (par exemple Down).
Talla baja, pubertad retrasada, amenorrea o genitales ambiguos (para descartar aneuploidias y mosaicos de los cromosomas sexuales).
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1.
Bharath R, Unnikrishnan AG, Thampy MV, Anilkumar A, Nisha B, Praveen VP, et al. Turner syndrome and its variants. Indian J Pediatr [Internet]. 2010 [cited 2022 Sept 24];77(2):193–5. Available from: http://link.springer.com/10.1007/s12098-009-0226-7
Muerte fetal, muerte neonatal y aborto (para descartar aneuploidia).
Couples ayant des antécédents d’infertilité ou d’avortements à répétition (pour exclure des translocations équilibrées : réarrangements chromosomiques réciproques o investissements).
Tout comme les translocations réciproques, la plupart des inversions sont héréditaires et ne sont pas associées à un phénotype clinique, mais les porteurs courent un risque accru de produire des gamètes anormaux et des problèmes de fertilité associés en raison du croisement d'événements de méiose impliquant le segment inversé.
Antécédents familiaux d'anomalies chromosomiques détectées par des méthodes cytogénétiques (variantes de l'hétérochromatine, etc.).
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1.
Liehr T. Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants. Mol Cytogenet [Internet]. 2016 Jan 22 [cited 2022 Sept 24];9:5. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724132/
Quand aCGH détecte une trisomie d'un chromosome acrocentrique (notamment 13 et 21), cela peut être le résultat d'une trisomie libre (qui est le plus souvent sporadique) ou d'une Translocation Robertsonienne parental (associé à un risque accru de récidive).
Cuando el aCGH detecta una delección y una duplicación en un mismo cromosoma.
Puede ser indicativo de una inversión pericéntrica parental, por lo que habrá que realizar un cariotipo a los progenitores.
Cuando sospechemos alteraciones estructurales cromosómicas sin alteración del número de copias.
- Inversiones.
- Cromosomas en anillo.
- Cromosomas isodicéntricos (idic15).
Microcefalia y talla baja severa, o bien reordenamientos cromosómicos complejos, para descartar aneuploidia variegata en mosaico, síndrome de Nijmejen.
