title: Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p.
abstract: We describe a male child with craniofacial anomalies, postnatal onset growth retardation, microcephaly, multiple minor anomalies, hearing loss, and moderate delay of mental and statomotor development. He carries a previously undescribed tandem translocation between the long arm of chromosome 14 and the short arm of chromosome 21 that arose de novo. As proven by fluorescence in situ hybridization a microdeletion not detectable with high-resolution G-banding occured in 14q32.3, the terminal band on the long arm of chromosome 14. The resulting phenotype includes most abnormalities encountered in patients with terminal 14q32.3 deletions but in addition includes some characteristics of the ring chromosome 14 syndrome.
authors.affiliation: Institute of Human Genetics of the University, Münster, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Meschede
authors.forename: R
authors.initials: R
authors.lastname: Exeler
authors.forename: B
authors.initials: B
authors.lastname: Wittwer
authors.forename: J
authors.initials: J
authors.lastname: Horst
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D012303:Ring Chromosomes; D014178:Translocation, Genetic