title: Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
abstract: We report on an 8-month-old girl with intra-uterine growth retardation, microcephaly, incomplete cleft lip, axial hypotonia, failure to thrive, and brachydactyly type B (phalangeal agenesis and absence of nails). She carried a supernumerary marker chromosome derived from chromosomes 4 and 9, leading to 4pter-q12 and 9pter-p21.2 duplication. The marker was derived from the 3:1 segregation of a maternal balanced translocation 46,XX, t(4;9)(q12;p21.2). The proposita is the first reported individual with distal phalangeal agenesis and anonychia, and trisomy 4p and partial trisomy 9p due to 3:1 segregation of a maternal reciprocal translocation.
authors: Department of Genetics, APHP Robert Debré University Hospital, Paris, France. jerome.rambaud@yahoo.fr
authors: Jérôme
authors: J
authors: Rambaud
authors: Isabelle
authors: I
authors: Marey
authors: Céline
authors: C
authors: Dupont
authors: Laurence
authors: L
authors: Perrin-Sabourin
authors: Yline
authors: Y
authors: Capri
authors: Anne Claude
authors: AC
authors: Tabet
authors: Brigitte
authors: B
authors: Benzacken
authors: Alain
authors: A
authors: Verloes
authors: Azzedine
authors: A
authors: Aboura
authors: Marion
authors: M
authors: Gérard
mesh_terms: D002894:Chromosomes, Human, Pair 4; D002899:Chromosomes, Human, Pair 9; D005260:Female; D050278:Finger Phalanges / Q000473:pathology*; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009262:Nails / Q000473:pathology*