title: Another patient with a deletion 14q11.2q13.
abstract: We report another case of a de novo interstitial del (14) (q11.2q13). The patient's karyotype was 46,XY,del(14) (q11.2q13) [62]/46,XY [1]. In situ hybridization excluded any additional abnormalities such as a translocation or insertion. The phenotype of our patient is compared with those previously published. Comparison of the chromosome 14 short arm polymorphisms of the patient and his parents indicated that the paternal chromosome 14 was deleted.
authors.affiliation: Department of Clinical Genetics, Veldhoven, The Netherlands.
authors.forename: L
authors.initials: L
authors.lastname: Govaerts
authors.forename: J
authors.initials: J
authors.lastname: Toorman
authors.forename: M V
authors.initials: MV
authors.lastname: Blij-Philipsen
authors.forename: D
authors.initials: D
authors.lastname: Smeets
mesh_terms: D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D006801:Humans; D017403:In Situ Hybridization; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011110:Polymorphism, Genetic