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New Autosomal Syndromes: Trisomies 4p and 9p
Published online by Cambridge University Press: 26 February 2025
Abstract
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Six cases of trisomy 4p and three of trisomy 9p are reported. Growth retardation is an aspecific clinical sign, present in both of these “new autosomal” syndromes. Growth hormone determinations fit in the normal range. The attempts to subclassify these disorders correlating the severity of clinical manifestations and the size of the imbalanced chromosome segment, are considered unrealistic approaches.
Riassunto
Vengono descritti 6 casi di trisomia 4p e 3 casi di trisomia 9p. Il ritardo della crescita è un segno clinico aspecifico presente in ambedue queste nuove sindromi autosomiche. Le determinazioni dell'ormone della crescita danno valori normali. I tentativi di sottoclassificare queste anomalie in rapporto alla gravità delle manifestazioni cliniche e alle dimensioni del segmento cromosomico sbilanciato non appaiono realistici.
Résumé
Six cas de trisomie 4p et trois cas de trisomie 9p sont décrits. Le retard de la croissance est un signe clinique aspécifique présent dans les deux syndromes. Les valeurs de l'hormone de la croissance sont normales. Les tentatives de classifier ces anomalies par rapport aux manifestations cliniques et aux dimensions du segment chromosomique non-balancé ne semblent pas réalistiques.
Zusammenfassung
Verf. beschreiben 6 Fälle von 4p-Trisomie und 3 Fälle von 9p-Trisomie. Bei beiden dieser neuen autosomen Syndrome stellt die Wachstumsverzögerung ein aspezifisches klinisches Symptom dar. Eine Bestimmung der Wachstumshormone ergab normale Werte. Versuche, diese Anomalien je nach Schwere der klinischen Erscheinungen oder nach den Dimensionen der nicht ausbilanzierten Chromosomensegmente in Untergruppen einzuteilen, erscheinen nicht realistisch.
- Type
- Research Article
- Information
- Acta geneticae medicae et gemellologiae: twin research , Volume 26 , Issue 3-4 , October 1977 , pp. 267 - 273
- Copyright
- Copyright © The International Society for Twin Studies 1977
References
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