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Interstitial 6q deletion and Prader‐Willi‐like phenotype
Author(s) -
Stein Constance K.,
Stred Susan E.,
Thomson Laura L.,
Smith Frank C.,
Hoo Joe J.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb03794.x
Subject(s) - phenotype , genetics , long arm , biology , chromosome , gene
A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader‐Willi syndrome (PWS) is presented. Although preliminary clinical evaluation in each case suggested PWS, further review revealed that the features in all three cases are not completely compatible with the characteristic findings in Prader‐Willi syndrome. Furthermore, the deletions in the three cases do not show a consistent region of overlap. Consequently, no particular band or region in 6q can be defined as associated widi obesity. However, our findings confirm the suggestion of Villa et al. in 1995, that individuals with a PWS phenotype who are cytogenetically and molecularly negative for a deletion of 15q11‐q13 should be examined for a deletion of 6q.