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PMID: 7450770 Published · ppublish English Case Reports Journal Article

A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members.

Human genetics ·Vol. 55 ·No. 2 ·1980-00-00 ·Pages 271-3

Smith A, Noel M

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.

MeSH Terms
Adult Chromosomes, Human, 13-15/ultrastructure Female Genetic Counseling Humans Male Pedigree Prader-Willi Syndrome/genetics Translocation, Genetic
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Smith A
Noel M
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23 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00291777
Published
1980-00-00
Pages
271-3
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00291777 View journal details
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