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The Brachmann‐de Lange syndrome in two siblings of normal parents
Author(s) -
FRYNS J. P.,
Dereymaeker A. M.,
Hoefnagels M.,
D'Hondt F.,
Mertens G.,
Berghe H. van den
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.tb02835.x
Subject(s) - prometaphase , medicine , pediatrics , chromosome , genetics , biology , metaphase , gene
In this report we describe two male siblings with typical Brachmann‐de Lange syndrome. Both presented a severe form of this MCA syndrome, and died at the age of 3 months and 3 weeks, respectively. Family history was completely negative, parents were normal, and prometaphase chromosome studies failed to reveal a chromosomal basis for this unique malformation syndrome.