A Case of 3q29 Microdeletion Syndrome Involving Oral Cleft Inherited from a Nonaffected Mosaic Parent: Molecular Analysis and Ethical Implications

Overview

Journal Cleft Palate Craniofac J

Specialties Dentistry
General Surgery

Date 2010 May 27

PMID 20500065

Citations 5

Authors

Aline L Petrin

Sandra Daack-Hirsch

Jamie LHeureux

Jeffrey C Murray

Affiliations

Soon will be listed here.

Abstract

Objective: The objective of this study was to use array comparative genomic hybridization to detect causal microdeletions in samples of subjects with cleft lip and palate.

Subjects: We analyzed DNA samples from a male patient and his parents seen during surgical screening for an Operation Smile medical mission in the Philippines.

Method: We used Affymetrix® Genome-Wide Human SNP Array 6.0 followed by sequencing and quantitative polymerase chain reaction using SYBR Green I dye.

Results: We report the second case of 3q29 microdeletion syndrome including cleft lip with or without cleft palate and the first case of this microdeletion syndrome inherited from a phenotypically normal mosaic parent.

Conclusions: Our findings confirm the usefulness of a comparative genomic hybridization to detect causal microdeletions and indicate that parental somatic mosaicism should be considered in healthy parents for genetic counseling of the families. We discuss important ethical implications of sharing health impact results from research studies with the participant families.

Citing Articles

Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.

Lansdon L, Dickinson A, Arlis S, Liu H, Hlas A, Hahn A Am J Hum Genet. 2022; 110(1):71-91.

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Ethical issues in genomics research on neurodevelopmental disorders: a critical interpretive review.

Mezinska S, Gallagher L, Verbrugge M, Bunnik E Hum Genomics. 2021; 15(1):16.

PMID: 33712057 PMC: 7953558. DOI: 10.1186/s40246-021-00317-4.

Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.

Murphy M, Burrell T, Cubells J, Epstein M, Espana R, Gambello M BMC Psychiatry. 2020; 20(1):184.

PMID: 32321479 PMC: 7179007. DOI: 10.1186/s12888-020-02598-w.

Familial inheritance of the 3q29 microdeletion syndrome: case report and review.

Khan W, Cohen N, Scott S, Pereira E BMC Med Genomics. 2019; 12(1):51.

PMID: 30885185 PMC: 6421695. DOI: 10.1186/s12920-019-0497-4.

A clinical case report and literature review of the 3q29 microdeletion syndrome.

Cox D, Butler M Clin Dysmorphol. 2015; 24(3):89-94.

PMID: 25714563 PMC: 5125389. DOI: 10.1097/MCD.0000000000000077.

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