title: Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect.
abstract: A terminal transverse limb reduction defect is a relatively common congenital malformation that most often occurs unilaterally and in isolation. A mildly mentally disabled boy is described with an absent left hand, a congenital cardiac defect, short stature, facial dysmorphism and skin pigmentary anomalies. Karyotyping of fibroblasts revealed mosaic trisomy 22. Most of the clinical features of our patient are consistent with the phenotype of mosaic trisomy 22, however, a terminal transverse reduction defect has until now never been reported in association with this chromosomal aberration.
authors.affiliation: Department of Human Genetics, University Medical Centre Nijmegen, the Netherlands Department of Paediatrics, Catharina Hospital Eindhoven, the Netherlands Department of Medical Genetics, University Medical Centre Utrecht, the Netherlands.
authors.forename: E Mariken
authors.initials: EM
authors.lastname: Ruiter
authors.forename: Jan
authors.initials: J
authors.lastname: Toorman
authors.forename: Ron
authors.initials: R
authors.lastname: Hochstenbach
authors.forename: Bert B A
authors.initials: BBA
authors.lastname: de Vries
mesh_terms: D002648:Child; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D011859:Radiography; D014314:Trisomy / Q000235:genetics* / Q000473:pathology