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MCA/MR syndrome with features of Hallermann‐Streiff syndrome and 4q deficiency/ 14q duplication
Author(s) -
Fryns J. P.,
Borghgraef M.,
Lemmens F.,
Berghe H.
Publication year - 1993
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.1399-0004.1993.tb03866.x
Subject(s) - gene duplication , medicine , genetics , anatomy , biology , gene
Fryns JP, Borghgraef M, Lemmens F, Van den Berghe H. MCA/MR syndrome with features of Hallermann‐Streiff syndrome and 4q deficiency/14q duplication. Clin Genet 1993: 44: 146–148. © Munksgaard, 1993 In this report we present the clinical history and findings in a female newborn with 4q deficiency/14q duplication, the unbalanced product of a paternal t(4;14)(q33;q32). The clinical symptoms and signs observed in this child up to the age of 14 months were most compatible with the diagnosis of Hallermann‐Streiff syndrome.