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. 2008 Nov 12;27(3):305–311. doi: 10.1111/j.1469-8749.1985.tb04540.x

CHROMOSOME 15 IN PRADER‐WILLI SYNDROME

C N Fear 1, D E Mutton 2, A C Berry 3,✉, J Z Heckmatt 4, V Dubowitz 5
PMCID: PMC7163620  PMID: 4018424

Abstract

SUMMARY

Nineteen children with the clinical features of Prader‐Willi syndrome were karyotyped, using both routine Giemsa banding and high‐resolution techniques. Chromosome abnormalities involving chromosome 15 were found in 10, entirely normal chromosomes in five and for the remaining four the findings were either equivocal or difficult to interpret. There was no clinical distinction between cases with and without the chromosome anomaly. Examination of three parents and a group of controls showed that the proximal end of the long arm of chromosome 15 may have a considerable degree of normal variation, which can make interpretation difficult.

RÉSUMÉ

Chromosome 15 et syndrome de Prader‐ Willi

Un caryotype, utilisant les techniques de routine de bandes de Giemsa et de haute résolution, a été pratique chez 19 enfants présentant les caractéristiques cliniques du syndrome de Prader‐Willi. Des anomalies chromosomiques impliquant le chromosome 15 ont été trouvées dans 10 cas, les chromosomes étaient entièrement normaux dans cinq cas, les données étaient équivoques ou difficiles à interpréter dans les quatre cas restants. II n'y avait pas de distinction clinique entre les cas avec ou sans les anomalies chromosomiques. L'examen de la parenté et des contrôles a montré que l'extrémité proximale du bras long du chromosome 15 peut présenter un degré considérable de variation normale, ce qui peut rendre l'interprétation difficile.

ZUSAMMENFASSUNG

Chromosom IS beim Prader‐ Willi Syndrom

Von 19 Kindern mit den klinischen Merkmalen des Prader‐Willi syndroms wurde durch die Giemsa Bandentechnik und durch hone Auflösungstechniken der Karyotyp bestimmt. Bei 10 Kindern wurden Veränderungen des Chromosoms 15 gefunden, fünf hatten ganz normale Chromosomen und bei den restlichen vier waren die Befunde unklar oder schwer zu interpretieren. Klinisch fand sich kein Unterschied zwischen den Fällen mit und ohne Chromosomenveränderung. Untersuchungen von Eltern und Kontrollen ha ben gezeigt, daß das proximale Ende des langen Armes beim Chromosom 15 viele Normvarianten hat, wodurch die Interpretation erschwert werden kann.

RESUMEN

El cromosoma 15 en el sindrome de Prader‐ Willi

Se determinó el cariotipo de diecinueve niños con las caracteristicas clínicas del sindrome de Prader‐Willi, utilizando las técnicas de las bandas de Giemsa y de alta resolución. En 10 casos se hallaron anomalías en el cromosoma 15 y cromosomas normales en cinco, mientras que los otros cuatro casos era de interpretación equívoca o dificil. No había ninguna diferencia clínica entre los casos con o sin la anomalia cromosómica. El examen de los padres y de los controles mostró que el extremo proximal del brazo largo del cromosoma 15 muestra un grado considerable de variación normal, lo cual puede dificultar la interpretación.

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