Fourteen patients with the Prader-Willi syndrome and five suspected infants were studied cytogenetically. High-resolution chromosome analyses with a modified ethidium bromide technique revealed an interstitial deletion of the proximal 15q in 13 out of the 14 typical patients and in four of the five suspected infants. A 15;15 Robertsonian translocation with a deletion in the proximal 15q was noticed in one infant. But in one patient, a normal karyotype was confirmed. The affected region common to all the patients was confined to a sub-band 15q11.2 (ISCN, 1981). These findings support the result of a recent study by Ledbetteret al. (1981, 1982), and indicate that the frequency of the 15q deletion in definite patients with the Prader-Willi syndrome is very high.
Holm, V.A. 1981. The diagnosis of Prader-Willi syndrome. InParader-Willi Syndrome, Holm, V.A., Sulzbacher, S.J., and Pipes, P.L., eds., University Park Press, Baltimore, pp. 27–36.
Ikeuchi, T. and Sasaki, M. 1979. Accumulation of early mitotic cells in ethidium bromide-treated human lymphocyte cultures.Proc. Jpn. Acad. 55:15–18.
ISCN 1981: An International System for Human Cytogenetic Nomenclature-High-Resolution Banding.Cytogenet. Cell Genet. 31: 1–32.
Kouseff, B.G. 1982. The cytogenetic controversy in the Prader-Labhart-Willi syndrome.Am. J. Med. Genet. 13:431–439.
Ledbetter, D.H., Riccardi, V.M., Airhart, S.D., Strobel, R.J., Keenan, B.S., and Crawford, J.D. 1981. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.New Engl. J. Med. 304: 325–329.
Ledbetter, D.H., Mascarello, J.T., Riccardi, V.M., Harper, V.D., Airhart, S.D., and Strobel, R.J.. 1982. Chromosome 15 abnormalities and the Prader-Willi syndrome: A follow-up report of 40 cases.Am. J. Hum. Genet. 34:278–285.
McKusick, V.A. (ed.) 1978.Menderian Inheritance in Man, Johns Hopkins Univ. Press, Baltimore, London, p. 644.
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Fukushima, Y., Niikawa, N. & Kuroki, Y. The Prader-Willi syndrome and interstitial deletion of chromosome 15: High-resolution chromosome analyses of 14 patients with the Prader-Willi syndrome and of 5 suspected infants. Jap J Human Genet 29, 1–6 (1984). https://doi.org/10.1007/BF01876751
- Cancer Research
- Ethidium Bromide
- Chromosome Analysis
- Normal Karyotype
- Typical Patient