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Monosomy and trisomy of 15q24-qter with cleft lip and palate.
Int J Oral Maxillofac Surg. 2008 May; 37(5):487-90.IJ

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+Show Affiliations

The First Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18262763

Citation

Abe, A, et al. "Monosomy and Trisomy of 15q24-qter With Cleft Lip and Palate." International Journal of Oral and Maxillofacial Surgery, vol. 37, no. 5, 2008, pp. 487-90.
Abe A, Hatano Y, Kurita K, et al. Monosomy and trisomy of 15q24-qter with cleft lip and palate. Int J Oral Maxillofac Surg. 2008;37(5):487-90.
Abe, A., Hatano, Y., Kurita, K., Nakano, M., Shimizu, M., Yokoi, T., & Sugiyama, N. (2008). Monosomy and trisomy of 15q24-qter with cleft lip and palate. International Journal of Oral and Maxillofacial Surgery, 37(5), 487-90. https://doi.org/10.1016/j.ijom.2007.10.003
Abe A, et al. Monosomy and Trisomy of 15q24-qter With Cleft Lip and Palate. Int J Oral Maxillofac Surg. 2008;37(5):487-90. PubMed PMID: 18262763.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Monosomy and trisomy of 15q24-qter with cleft lip and palate. AU - Abe,A, AU - Hatano,Y, AU - Kurita,K, AU - Nakano,M, AU - Shimizu,M, AU - Yokoi,T, AU - Sugiyama,N, Y1 - 2008/02/11/ PY - 2005/03/08/received PY - 2007/08/13/revised PY - 2007/10/01/accepted PY - 2008/2/12/pubmed PY - 2008/9/19/medline PY - 2008/2/12/entrez SP - 487 EP - 90 JF - International journal of oral and maxillofacial surgery JO - Int J Oral Maxillofac Surg VL - 37 IS - 5 N2 - 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. SN - 0901-5027 UR - https://www.unboundmedicine.com/medline/citation/18262763/Monosomy_and_trisomy_of_15q24_qter_with_cleft_lip_and_palate_ DB - PRIME DP - Unbound Medicine ER -