J Med Genet. 1979 Jun;16(3):234-5.

The Prader-Willi syndrome with a 15/3 translocation.

Abstract

A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by trypsin banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular hypotonia). The pathogenic role of chromosome 15 abnormalities in the aetiology of this syndrome is discussed.

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PMCID:: PMC1012701

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A new case of rearrangement of chromosome 15 associated with Prader Willi syndrome. [Clin Genet. 1980]
A new case of rearrangement of chromosome 15 associated with Prader Willi syndrome.
Guanti G. Clin Genet. 1980 Jun; 17(6):423-7.
[A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)]. [Ann Genet. 1979]
[A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)].
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Varela MC, Lopes GM, Koiffmann CP. Ann Genet. 2004 Jul-Sep; 47(3):267-73.
Review Prader-Willi syndrome. [Neurol Clin. 1989]
Review Prader-Willi syndrome.
Cassidy SB, Ledbetter DH. Neurol Clin. 1989 Feb; 7(1):37-54.

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Cited by 3 PubMed Central articles

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome. [Orphanet J Rare Dis. 2011]
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.
Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A. Orphanet J Rare Dis. 2011 Apr 19; 6:17. Epub 2011 Apr 19.
Chromosome 15 in floppy infants. [Arch Dis Child. 1981]
Chromosome 15 in floppy infants.
Berry AC, Whittingham AJ, Neville BG. Arch Dis Child. 1981 Nov; 56(11):882-5.
Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. [Am J Hum Genet. 1982]
Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.
Ledbetter DH, Mascarello JT, Riccardi VM, Harper VD, Airhart SD, Strobel RJ. Am J Hum Genet. 1982 Mar; 34(2):278-85.

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