title: Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
abstract: The aim of this study was to obtain a quantitative definition of Wolf-Hirschhorn syndrome (WHS) through systematic phenotypic analyses in a group of six children with 4p15.32 → pter, 4p15.33 → pter, or 4p16.1 → pter monosomy (considered together as M4p16.1). These results were used for evaluation of the phenotypic effects of a double chromosome imbalance in one child with 4p16.1 → pter monosomy and additional 11q23.3 → qter trisomy. Children with pure M4p16.1 presented with a total of 227 clinical and morphological traits, of which 119 were positive in at least two of them. These traits overlap to a great extent with clinical criteria defining the WHS phenotype. Among the 103 traits identified in the child with unbalanced translocation der(4)t(4;11)(p16.1;q23.3), most clinical and developmental traits (but only 11 morphological) were found to be shared by WHS children with pure M4p16.1 and at least one reported patient with pure 11q trisomy. Forty-six traits of this child corresponded solely to those identified in at least one child with pure M4p16.1. Only five traits of the hybrid phenotype were present in at least one child with pure distal 11q trisomy but in none of the present children with pure M4p16.1. In conclusion, most of the morphological traits of the hybrid phenotype in the child with der(4)t(4;11)(p16.1;q23.3) can be attributed to the M4p16.1, whereas their overlap with those associated with pure distal 11q trisomy is less evident. Phenotype analyses based on the same systematic data acquisition may be useful in understanding the phenotypic effects of different chromosome regions in complex rearrangements. © 2011 Wiley-Liss, Inc.
authors: Department of Clinical Genetics, Medical University of Bialystok, Bialystok, Poland.
authors: Piotr S
authors: PS
authors: Iwanowski
authors: Barbara
authors: B
authors: Panasiuk
authors: Griet
authors: G
authors: Van Buggenhout
authors: Marina
authors: M
authors: Murdolo
authors: Marta
authors: M
authors: Myśliwiec
authors: Nicole M C
authors: NM
authors: Maas
authors: Serena
authors: S
authors: Lattante
authors: Lech
authors: L
authors: Korniszewski
authors: Renata
authors: R
authors: Posmyk
authors: Jacek
authors: J
authors: Pilch
authors: Stanislaw
authors: S
authors: Zajączek
authors: Jean-Pierre
authors: JP
authors: Fryns
authors: Marcella
authors: M
authors: Zollino
authors: Alina T
authors: AT
authors: Midro
mesh_terms: D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*