title: Trisomy 7p: report of 2 patients and literature review.
abstract: Two patients with a trisomy 7p are reported. Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.
authors.affiliation: Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
authors.forename: Y H
authors.initials: YH
authors.lastname: Arens
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: J J
authors.initials: JJ
authors.lastname: Engelen
authors.forename: J P
authors.initials: JP
authors.lastname: Offermans
authors.forename: A J
authors.initials: AJ
authors.lastname: Hamers
authors.forename: J J
authors.initials: JJ
authors.lastname: Schrander
authors.forename: C F
authors.initials: CF
authors.lastname: Pulles-Heintzberger
authors.forename: C T
authors.initials: CT
authors.lastname: Schrander-Stumpel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014314:Trisomy