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Characterization of deletions in a cohort with cleft lip and palate

Massiello, Emily (2017) Characterization of deletions in a cohort with cleft lip and palate. Master's Thesis, University of Pittsburgh. (Unpublished)

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Orofacial clefts are relatively common birth defects with an estimated incidence of 1 in 700 live births that carry a significant public health burden. The causal factors of the development of orofacial clefts are complex; monogenic, multifactorial, non-syndromic and syndromic forms are all described in the literature. In almost all cases, genetics are thought to play a role in the etiology. In this study, we used an international cohort of 2,141 orofacial cleft patients and their families to find individuals with microdeletions, utilizing genome wide SNP chips for genetic analyses. We identified 94 individuals with deletions greater than 750 kb and compared them to registries with detailed phenotypic features and medical and family histories. We divided the cohort into distinct groupings: (1) individuals with a highly–penetrant orofacial cleft-associated deletion syndrome, (2) individuals with a lower-penetrant orofacial cleft microdeletion, (3) individuals with a large deletion encompassing likely contributory genes, and (4) individuals with a deletion of unknown significance. This cohort helps to support previous literature describing patients with orofacial clefts and microdeletions, along with presenting rarer associations, including an individual with a 12q21.1 deletion and cardiofaciocutaneous-like phenotype, an individual with a 7q36.3 deletion within the SHH regulator region with an absent nasal bone and cartilage, and an individual with a 3p26.3 deletion with a family history of polydactyly and intellectual disability. With our cohort, we help to define the range of associated features in individuals with microdeletions and orofacial clefts.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Massiello, Emilyecm56@pitt.eduecm56
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairLeslie, Elizabeth Jejl40@pitt.eduejl40
Committee MemberShaffer, John Rjohn.r.shaffer@pitt.edujrs51
Committee MemberGrubs, Robin Ergrubs@pitt.edurgrubs
Date: 29 June 2017
Date Type: Publication
Defense Date: 5 April 2017
Approval Date: 29 June 2017
Submission Date: 3 April 2017
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 58
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Cleft lip; cleft palate; orofacial cleft; genetics; microdeletion
Date Deposited: 29 Jun 2017 23:22
Last Modified: 29 Jun 2017 23:22


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