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Prader‐Willi syndrome in two siblings: one with normal karyotype, one with a terminal deletion of distal Xq
Author(s) -
Ishikawa Tatsuya,
Kanayama Manabu,
Wada Yoshiro
Publication year - 1987
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.1399-0004.1987.tb03293.x
Subject(s) - karyotype , sister , genetics , girl , biology , chromosome , long arm , gene , sociology , anthropology
Two sibs, a 13‐year‐old girl and an 11‐year‐old girl, with typical clinical features of the Prader‐Willi syndrome (PWS) are reported. High‐resolution chromosome analysis showed the normal karyotype in the eider sister, and 46,X,del(X)(pter→q26.1:) in the younger sister. But an interstitial deletion of 15q was not detected in either of the cases. PWS is most probably an etiologically heterogeneous syndrome consisting of two subgroups, with partial deletion and non‐deletion of chromosome 15, respectively.