Indikationen, bei denen die Karyotypisierung den molekulardiagnostischen Verfahren weiterhin überlegen ist:
Typische phänotypische Merkmale eines bestimmten chromosomalen Syndroms (z. B. 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).
Paare mit einer Vorgeschichte von Unfruchtbarkeit oder wiederholten Aborten (um ausgeglichene Translokationen auszuschließen: reziproke Chromosomenumlagerungen o Investitionen).
Ähnlich wie bei reziproken Translokationen werden die meisten Inversionen vererbt und sind nicht mit einem klinischen Phänotyp verbunden, aber Träger haben ein erhöhtes Risiko, abnormale Gameten und damit verbundene Fruchtbarkeitsprobleme zu produzieren, als Folge von Crossover-Ereignissen in der Meiose, die das invertierte Segment betreffen.
Familienanamnese mit zytogenetisch nachgewiesenen Chromosomenanomalien (Heterochromatinvarianten 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/
Wenn aCGH eine Trisomie eines Chromosoms erkennt akrozentrisch (insbesondere 13 und 21) kann dies die Folge einer freien Trisomie (die in den meisten Fällen sporadisch ist) oder a Robertsonsche Translokation elterlich (verbunden mit einem erhöhten Risiko eines erneuten Auftretens).
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.
