title: 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?
abstract: We describe a 3-year-old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low-set ears, dysphonic hoarse voice, hyperactivity, and small hands with proximal placement of the thumbs. She had recurrent lung infections, due to earlier aspiration and immune deficiency (chronic granulomatous disease). Cytogenetic findings in this and other cases with suggestive phenotype may point to an additional locus for Brachmann-de Lange phenotype.
authors.affiliation: Division of Clinical Genetics, University of Tübingen, Tübingen, Germany.
authors.forename: U A
authors.initials: UA
authors.lastname: Mau
authors.forename: C
authors.initials: C
authors.lastname: Backsch
authors.forename: H
authors.initials: H
authors.lastname: Schaudt
authors.forename: F K
authors.initials: FK
authors.lastname: Trefz
authors.forename: P
authors.initials: P
authors.lastname: Kaiser
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D002898:Chromosomes, Human, Pair 8; D003635:De Lange Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D009006:Monosomy; D014314:Trisomy