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232534

Genetic Study of Cleft Lip with or without Cleft Palate and Cleft Palate

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Last updated: 03 Jan 2025

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Abstract

Cleft lip with or without cleft palate and cleft palate are the most frequent craniofacial malformations in different populations. Its etiology remains unknown for the majority of cases. This study was carried out on 75 patients with oral clefts. They were distributed as 13.4% for cleft lip [CL], 33.3% for cleft lip and palate [CLP] and 53.3% for cleft palate [CP]. The male to female ratio was 0.83 for all cases. CL was more frequent among males, on the other hand there was a high frequency of CP among females. Familial cases were found in 8% of CP 2 of patients, they were mainly among sibs. 40% of the studied cases were descendants of consanguineous parents [with 18 % first cousins], this confirms strongly that consanguinity had determinant effect in transmission of multifactorial traits. Isolated or non-syndromic clefts constituted 60% of cases, while associated clefts with other malformations or as a part of syndrome constituted 40% of cases. Similar associated malformations were described irrespective to the type of cleft. Cytogenetic study revealed normal karyotypes in all isolated cases. Abnormal karyotypes were detected in 6 patients of the associated group, 3 trisomies, 2 monosomies and one had abnormal supernumerary chromosomal marker. Risk factors during the first trimester of pregnancy were found in 40% of cases, mainly maternal illness, infections, intake of medications and nutritional deficiencies which may have a role in development of clefting.

DOI

10.21608/jhiph.2001.232534

Keywords

Genetic study, cleft lip, cleft palate

Authors

First Name

Amal

Last Name

Abd El Aziz

MiddleName

M.

Affiliation

Human Genetics Department, Medical Research Institute, Alexandria University, Egypt

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Orcid

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First Name

Nargues

Last Name

Hasanein

MiddleName

M.

Affiliation

Human Genetics Department, Medical Research Institute, Alexandria University, Egypt

Email

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City

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Orcid

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First Name

Sahar

Last Name

EI Shfei

MiddleName

A.

Affiliation

Human Genetics Department, Medical Research Institute, Alexandria University, Egypt

Email

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City

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Orcid

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First Name

Nabila

Last Name

Kassem

MiddleName

S.

Affiliation

Human Genetics Department, Medical Research Institute, Alexandria University, Egypt

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City

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Orcid

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Volume

31

Article Issue

3

Related Issue

32843

Issue Date

2001-07-01

Receive Date

2022-04-21

Publish Date

2001-07-01

Page Start

649

Page End

658

Print ISSN

2357-0601

Online ISSN

2357-061X

Link

https://jhiphalexu.journals.ekb.eg/article_232534.html

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https://jhiphalexu.journals.ekb.eg/service?article_code=232534

Order

14

Type

Original Article

Type Code

511

Publication Type

Journal

Publication Title

Journal of High Institute of Public Health

Publication Link

https://jhiphalexu.journals.ekb.eg/

MainTitle

Genetic Study of Cleft Lip with or without Cleft Palate and Cleft Palate

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Article

Created At

22 Jan 2023