Abstract:
:A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation--45,XX,t(14;15)(p11;q11). This type of Robertsonian translocation was not found in any patient from 8 surveys covering 6144 patients with mental retardation. Chromosome 15 has been involved in translocations in patients with the Prader-Willi Syndrome with greater than expected frequency. This is the first report of a 14;15 translocation and the Prader-Willi Syndrome. The same balanced translocation was present in the patient's mother and 2 normal siblings. Future genetic counselling for these 2 siblings will be difficult.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Smith A,Noel Mdoi
10.1007/BF00291777subject
Has Abstractpub_date
1980-01-01 00:00:00pages
271-3issue
2eissn
0340-6717issn
1432-1203journal_volume
55pub_type
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