Indikationen, bei denen die Karyotypisierung den molekulardiagnostischen Verfahren weiterhin überlegen ist:
Typische phänotypische Merkmale eines bestimmten chromosomalen Syndroms (z. B. Down).
Kleinwuchs, verzögerte Pubertät, Amenorrhoe oder unklare Genitalien (zum Ausschluss). Aneuploidien und Geschlechtschromosomenmosaike).
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1.
Bharath R, Unnikrishnan AG, Thampy MV, Anilkumar A, Nisha B, Praveen VP u. a. Das Turner-Syndrom und seine Varianten. Indian J Pediatr [Internet]. 2010 [zitiert am 24. September 2022];77(2):193–5. Verfügbar unter: http://link.springer.com/10.1007/s12098-009-0226-7
Fetaler Tod, neonataler Tod und Abtreibung (zum Ausschluss). Aneuploidie).
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. Zytogenetisch nachweisbare Kopienzahlvariationen (CG-CNVs) in der Bandenanalyse und molekularen Zytogenetik des Menschen; über Heteromorphismen und euchromatische Varianten. Mol Cytogenet [Internet]. 22. Januar 2016 [zitiert am 24. September 2022];9:5. Verfügbar unter: 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).
Wenn aCGH eine Deletion und eine Duplikation im selben Chromosom erkennt.
Dies kann auf eine perizentrische Inversion der Eltern hinweisen, daher muss bei den Eltern ein Karyotyp durchgeführt werden.
Wenn wir chromosomale Strukturveränderungen ohne Veränderung der Kopienzahl vermuten.
- Investitionen.
- Ringchromosomen.
- Isodizentrische Chromosomen (idic15).
Mikrozephalie und schwerer Kleinwuchs oder komplexe Chromosomenumlagerungen, um eine mosaik-variegate Aneuploidie, das Nijmejen-Syndrom, auszuschließen.
