Cytogenetic evaluation of orofacial clefts

Background: Orofacial cleft (OFC) is one of the common congenital anomalies of the face which includes cleft lip and or cleft palate that causes abnormal appearance of the face. It leads to difficulty in speech and feeding, especially in new-borns. Genetic and nongenetic factors may lead to OFCs. An...

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Autores principales:	Anjali Satyen Sabnis, Srivalli Natrajan
Formato:	article
Lenguaje:	EN
Publicado:	Wolters Kluwer Medknow Publications 2021
Materias:	cleft lip cleft palate karyotyping orofacial cleft Human anatomy QM1-695
Acceso en línea:	https://doaj.org/article/b63207bdf1f84cc4919bd6c0949481c7
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spelling	oai:doaj.org-article:b63207bdf1f84cc4919bd6c0949481c72021-11-12T10:25:52ZCytogenetic evaluation of orofacial clefts2277-40252321-278010.4103/NJCA.NJCA_60_21https://doaj.org/article/b63207bdf1f84cc4919bd6c0949481c72021-01-01T00:00:00Zhttp://www.njca.info/article.asp?issn=2277-4025;year=2021;volume=10;issue=4;spage=199;epage=204;aulast=Sabnishttps://doaj.org/toc/2277-4025https://doaj.org/toc/2321-2780Background: Orofacial cleft (OFC) is one of the common congenital anomalies of the face which includes cleft lip and or cleft palate that causes abnormal appearance of the face. It leads to difficulty in speech and feeding, especially in new-borns. Genetic and nongenetic factors may lead to OFCs. An association of OFC to genetic cause was assessed in the study. Methodology: Conventional karyotyping was done in 133 patients of all the age groups with OFCs (syndromic and nonsyndromic) to find out chromosomal aberrations (CAs) in OFCs, Department of Oral and Maxillofacial Surgery, MGM Dental College, Navi Mumbai directed patients to cytogenetic laboratory. Project was started after taking consent and ascent from the patient and institutional ethical approval. Results: The incidence of CAs is 2.2%, and polymorphic variations are 3.7%. Out of 133 patients 47, XXY was seen in one case and trisomy 21 was seen in two cases, polymorphic variations like pericentric inversion in chromosome 9, 16qh + and 22 pstk + were observed in one case each and 9qh+ was seen in two cases. Conclusion: The incidence of genetic involvement in terms of CAs and polymorphic variations to OFC is low. The application of molecular technique in patients with OFC will help to find out genetic involvement. Genetic counseling and precise prenatal diagnosis will prevent the incidence of OFC.Anjali Satyen SabnisSrivalli NatrajanWolters Kluwer Medknow Publicationsarticlecleft lipcleft palatekaryotypingorofacial cleftHuman anatomyQM1-695ENNational Journal of Clinical Anatomy, Vol 10, Iss 4, Pp 199-204 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	cleft lip cleft palate karyotyping orofacial cleft Human anatomy QM1-695
spellingShingle	cleft lip cleft palate karyotyping orofacial cleft Human anatomy QM1-695 Anjali Satyen Sabnis Srivalli Natrajan Cytogenetic evaluation of orofacial clefts
description	Background: Orofacial cleft (OFC) is one of the common congenital anomalies of the face which includes cleft lip and or cleft palate that causes abnormal appearance of the face. It leads to difficulty in speech and feeding, especially in new-borns. Genetic and nongenetic factors may lead to OFCs. An association of OFC to genetic cause was assessed in the study. Methodology: Conventional karyotyping was done in 133 patients of all the age groups with OFCs (syndromic and nonsyndromic) to find out chromosomal aberrations (CAs) in OFCs, Department of Oral and Maxillofacial Surgery, MGM Dental College, Navi Mumbai directed patients to cytogenetic laboratory. Project was started after taking consent and ascent from the patient and institutional ethical approval. Results: The incidence of CAs is 2.2%, and polymorphic variations are 3.7%. Out of 133 patients 47, XXY was seen in one case and trisomy 21 was seen in two cases, polymorphic variations like pericentric inversion in chromosome 9, 16qh + and 22 pstk + were observed in one case each and 9qh+ was seen in two cases. Conclusion: The incidence of genetic involvement in terms of CAs and polymorphic variations to OFC is low. The application of molecular technique in patients with OFC will help to find out genetic involvement. Genetic counseling and precise prenatal diagnosis will prevent the incidence of OFC.
format	article
author	Anjali Satyen Sabnis Srivalli Natrajan
author_facet	Anjali Satyen Sabnis Srivalli Natrajan
author_sort	Anjali Satyen Sabnis
title	Cytogenetic evaluation of orofacial clefts
title_short	Cytogenetic evaluation of orofacial clefts
title_full	Cytogenetic evaluation of orofacial clefts
title_fullStr	Cytogenetic evaluation of orofacial clefts
title_full_unstemmed	Cytogenetic evaluation of orofacial clefts
title_sort	cytogenetic evaluation of orofacial clefts
publisher	Wolters Kluwer Medknow Publications
publishDate	2021
url	https://doaj.org/article/b63207bdf1f84cc4919bd6c0949481c7
work_keys_str_mv	AT anjalisatyensabnis cytogeneticevaluationoforofacialclefts AT srivallinatrajan cytogeneticevaluationoforofacialclefts
_version_	1718431012479827968

Cytogenetic evaluation of orofacial clefts

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