title: 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.
abstract: Chromosome 4p- syndrome is a multiple malformation syndrome associated with partial deletion of the short arm of chromosome 4 (4p-). It is characterized by dysmorphic features and retarded development. Cleft lip and/or palate are the major clinical manifestations. Cases of tetrasomy 9p are extremely rare; the principal clinical manifestations of this condition are characteristic craniofacial abnormalities, generalized hypotonia and severe mental retardation. We present the first case of a female infant with 4p deletion and tetrasomy 9p mosaicism, exhibiting a left-sided cleft lip, alveolus and soft palate. Karyotype analysis of lymphocytes cultured from the patient revealed that she was mosaic: 86% of the cells were 46, XX, add (4) (p15.32) and 14% were 47, XX, add (4) (p15.32), +idic (9)(q12). The G-banding pattern appeared consistent with either translocation or partial proximal deletion of 4p. In order to make a definitive cytogenetic diagnosis of isodicentric chromosome 9, fluorescence in situ hybridization (FISH) was applied. At 8 months, when the patient weighed 4.3 kg, her cleft lip was repaired. Before and after surgery there were no seizures, and the postoperative course was uneventful.
authors.affiliation: Maxillofacial Surgery, Graduate School, Tokyo Medical and Dental University, Yushima, Tokyo, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Kobayashi
authors.forename: Y
authors.initials: Y
authors.lastname: Kimijima
authors.forename: S
authors.initials: S
authors.lastname: Yamada
authors.forename: T
authors.initials: T
authors.lastname: Amagasa
authors.forename: F
authors.initials: F
authors.lastname: Saito-Ohara
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D002899:Chromosomes, Human, Pair 9; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D018404:Isochromosomes; D007621:Karyotyping; D011123:Polyploidy; D013577:Syndrome; D014178:Translocation, Genetic