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Familial 5p‐ syndrome
Author(s) -
Kushnick Theodore,
Rao Kathleen W.,
Lamb Allen N.
Publication year - 1984
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.1399-0004.1984.tb01091.x
Subject(s) - genetics , growth retardation , long arm , chromosome , pediatrics , terminal (telecommunication) , medicine , biology , gene , pregnancy , telecommunications , computer science
This report concerns a mother and son with a small terminal deletion of the short arm of chromosome 5 (del(5)(qter → pi5.1:). Both mother and son had superficial resemblance to patients with classical Cri‐du‐Chat Syndrome, but lacked the severe mental and growth retardation generally associated with such cases.