Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome - Another locus for Brachmann-de Lange syndrome on 4p?

We describe a 3-year-old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, n o speech development, mild synophrys, hirsutism, apparently low-set ears, d ysphonic hoarse voice, hyperactivity, and small hands with proximal placeme nt of the thumbs. She had recurrent lung infections, due to earlier aspirat ion and immune deficiency (chronic granulomatous disease). Cytogenetic find ings in this and other cases with suggestive phenotype may point to an addi tional locus for Brachmann-de Lange phenotype. (C) 2000 Wiley-Liss, Inc.