title: Monosomy and trisomy of 15q24-qter with cleft lip and palate.
abstract: Chromosome 15 aberrations clinically present as facial dysmorphisms such as a prominent nose, low-set ears, micrognathia and a short neck; a cleft lip and palate have not been reported. This is the first reported case of de-novo terminal deletion at 15q24 with a cleft lip and palate and low-set ears. The baby boy had a complete cleft lip and palate on the left side and incomplete cleft lip and palate on the right. A chromosomal study revealed partial monosomy and trisomy of the long arm of chromosome 15, with a karyotype of 46,XY,add(15)(24q) de novo. Surgery for lip plasty was performed at 6 months old and for palate plasty at 1 year and 9 months. Both operations were uneventful, although preoperative and postoperative examinations showed high creatinine phosphokinase values. At 3 years old, mild mental retardation was observed, but his physical development was normal.
authors.affiliation: The First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Abe
authors.forename: Y
authors.initials: Y
authors.lastname: Hatano
authors.forename: K
authors.initials: K
authors.lastname: Kurita
authors.forename: M
authors.initials: M
authors.lastname: Nakano
authors.forename: M
authors.initials: M
authors.lastname: Shimizu
authors.forename: T
authors.initials: T
authors.lastname: Yokoi
authors.forename: N
authors.initials: N
authors.lastname: Sugiyama
mesh_terms: D002884:Chromosomes, Human, Pair 15; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009006:Monosomy / Q000473:pathology*; D014314:Trisomy / Q000473:pathology*