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12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
Cleft Palate Craniofac J 2008; 45(3):325-8CP

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+Show Affiliations

Department of Oral and Maxillofacial Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

18452363

Citation

Yamanishi, Tadashi, et al. "12q Interstitial Deletion With Bilateral Cleft Lip and Palate: Case Report and Literature Review." The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, vol. 45, no. 3, 2008, pp. 325-8.
Yamanishi T, Nishio J, Miya S, et al. 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review. Cleft Palate Craniofac J. 2008;45(3):325-8.
Yamanishi, T., Nishio, J., Miya, S., Okamoto, N., Takahashi, A., Toribe, Y., ... Kobayashi, C. (2008). 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review. The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, 45(3), pp. 325-8. doi:10.1597/07-061.1.
Yamanishi T, et al. 12q Interstitial Deletion With Bilateral Cleft Lip and Palate: Case Report and Literature Review. Cleft Palate Craniofac J. 2008;45(3):325-8. PubMed PMID: 18452363.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review. AU - Yamanishi,Tadashi, AU - Nishio,Juntaro, AU - Miya,Shigenori, AU - Okamoto,Nobuhiko, AU - Takahashi,Akihito, AU - Toribe,Yasuhisa, AU - Mukai,Takao, AU - Kobayashi,Chie, PY - 2008/5/3/pubmed PY - 2008/8/12/medline PY - 2008/5/3/entrez SP - 325 EP - 8 JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association JO - Cleft Palate Craniofac. J. VL - 45 IS - 3 N2 - 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. SN - 1055-6656 UR - https://www.unboundmedicine.com/medline/citation/18452363/12q_interstitial_deletion_with_bilateral_cleft_lip_and_palate:_case_report_and_literature_review_ L2 - http://journals.sagepub.com/doi/full/10.1597/07-061.1?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -