Premium
Terminal deletion(4)(q33) in a male infant
Author(s) -
Stamberg Judith,
Jabs Ethylin Wang,
Elias Ellen
Publication year - 1982
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.1399-0004.1982.tb00748.x
Subject(s) - phenotype , terminal (telecommunication) , genetics , biology , deletion syndrome , medicine , gene , computer science , telecommunications
The deletion of 4q31→qter is associated with a recognizable “4q ‐ syndrome”. It has been proposed that the much rarer deletion 4q33→qter causes a milder phenotypic expression of the 4q ‐ syndrome. We present the second case, the first male, with the latter deletion and compare his clinical features to those of other 4q ‐ patients.