title: Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation.
abstract: It has been suggested that partial distal 2p2----2pter duplication causes a relatively well defined clinical syndrome, mostly as regards craniofacial dysmorphism, musculoskeletal and genitalia anomalies. Duplications covering a larger portion of 2p i.e. 2p12 or 2p13----2pter are however less documented. The authors report a new case of partial 2p13----2pter duplication which supplies further evidence for short life expectancy due to the large number of malformations in these partial duplications.
authors.affiliation: Department of Pediatrics and Medical Genetics, Hôpital Saint-Charles, Montpellier, France.
authors.forename: P
authors.initials: P
authors.lastname: Sarda
authors.forename: G
authors.initials: G
authors.lastname: Lefort
authors.forename: P
authors.initials: P
authors.lastname: Devaux
authors.forename: C
authors.initials: C
authors.lastname: Humeau
authors.forename: D
authors.initials: D
authors.lastname: Rieu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D005810:Multigene Family / Q000235:genetics; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome