title: 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
abstract: The authors report the case of a Japanese girl with interstitial deletion of chromosome 12q15-q21.2 who had multiple congenital anomalies including bilateral cleft lip and palate (BCLP) with intrauterine onset of growth retardation and severe psychomotor developmental delay. Only two other patients with a similar deletion have been reported previously. However, these two patients showed such different clinical features that defining the karyotype-phenotype correlation has remained unfeasible. The additional case presented here reveals that two of the three cases with an overlapping deletion in 12q show the phenotype of BCLP, suggesting the correlation between this area of gene deletion and cleft lip and palate.
authors.affiliation: Department of Oral and Maxillofacial Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Yamanishi
authors.forename: Juntaro
authors.initials: J
authors.lastname: Nishio
authors.forename: Shigenori
authors.initials: S
authors.lastname: Miya
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Akihito
authors.initials: A
authors.lastname: Takahashi
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Toribe
authors.forename: Takao
authors.initials: T
authors.lastname: Mukai
authors.forename: Chie
authors.initials: C
authors.lastname: Kobayashi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn