title: Wolf-Hirschhorn syndrome due to a 3:1 segregation of a maternal balanced t(4;15)(p16.3;q11) translocation.
abstract: The Wolf-Hirschhorn syndrome (WHS) is characterized by severe pre- and postnatal growth retardation, specific pattern of dysmorphisms, and severe developmental delay. These clinical findings are the result of a deletion within the short arm of chromosome 4. Most cases occur de novo and are of paternal origin. Cases due to a balanced translocation are mostly of maternal origin and the deletion of distal 4p, including the WHS critical region, is often combined with a duplication of the other chromosomal segment involved in the rearrangement. Here, we report on a newborn female infant with WHS and pure tertiary monosomy due to a 3:1 segregation of a balanced maternal 4;15 translocation. In this context, importance of fluorescence in situ hybridization (FISH) with specific probes to determine the exact breakpoints in unbalanced chromosomal rearrangements with breakpoints localized around known microdeletion syndromes is emphasized.
authors.affiliation: Clinic of Neonatology, University Hospital, Zürich, Switzerland.
authors.forename: U
authors.initials: U
authors.lastname: Zimmermann-Bär
authors.forename: T
authors.initials: T
authors.lastname: Stallmach
authors.forename: M
authors.initials: M
authors.lastname: Riegel
authors.forename: U
authors.initials: U
authors.lastname: Wiedemann
authors.forename: J C
authors.initials: JC
authors.lastname: Fauchère
authors.forename: F
authors.initials: F
authors.lastname: Binkert
authors.forename: D
authors.initials: D
authors.lastname: Kotzot
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D013577:Syndrome