title: Terminal deletion of the long arm of chromosome 10: a new case with breakpoint in q25.3.
abstract: Since the first patient with partial deletion of the long arm of chromosome 10 was described in 1978, another 23 cases have been reported, with the breakpoint ranging from 10q23.3-26.2. To contribute further to the delineation of the monosomy 10qter syndrome, we describe a female child who, at age 3 6/12 years, was diagnosed with a de novo deletion of the long arm of chromosome 10, with a breakpoint in 10q25.3. The phenotypic manifestations in this child are compatible with those of previously reported cases. However, in contrast to most other patients, we found a moderate expression of the syndrome, with no genitourinary or cardiac malformations and with only mild retardation. Based on our observations and those of others, we conclude that a typical craniofacial appearance and varying degrees of psychomotor retardation are always found in patients with 10q- syndrome.
authors.affiliation: Children's Hospital, University of Würzburg, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Petersen
authors.forename: H M
authors.initials: HM
authors.lastname: Strassburg
authors.forename: W
authors.initials: W
authors.lastname: Feichtinger
authors.forename: W
authors.initials: W
authors.lastname: Kress
authors.forename: M
authors.initials: M
authors.lastname: Schmid
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D019457:Chromosome Breakage / Q000235:genetics*; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D019957:Motor Skills Disorders / Q000235:genetics; D013577:Syndrome