Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Autor:	Mohamed AM; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Kamel AK; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Eid MM; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Eid OM; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Mekkawy M; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Hussein SH; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Zaki MS; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Esmail S; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Afifi HH; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., El-Kamah GY; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Otaify GA; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., El-Awady HA; Department of Pediatrics, Faculty of Medicine, Fayoum University, Fayoum, Egypt., Elaidy A; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Essa MY; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., El-Ruby M; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Ashaat EA; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Hammad SA; Division of Human Genetics and Genome Research, Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Mazen I; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Abdel-Salam GMH; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Aglan M; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Temtamy S; Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Jazyk:	angličtina
Zdroj:	Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1829. Date of Electronic Publication: 2021 Oct 05.
DOI:	10.1002/mgg3.1829
Abstrakt:	Background: This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Methods: We investigated a cohort of nine patients with chromosome 9p terminal deletions who all displayed developmental delay, intellectual disability, hypotonia, and dysmorphic features. Of them, eight had trigonocephaly, seven had brain anomalies, seven had autistic manifestations, seven had fair hair, and six had a congenital heart defect (CHD). Results: Karyotyping revealed 9p terminal deletion in all patients, and patients 8 and 9 had additional duplication of other chromosomal segments. We used six bacterial artificial chromosome (BAC) clones that could identify the breakpoints at 17-20 Mb from the 9p terminus. Array CGH identified the precise extent of the deletion in six patients; the deleted regions ranged from 16 to 18.8 Mb in four patients, patient 8 had an 11.58 Mb deletion and patient 9 had a 2.3 Mb deletion. Conclusion: The gene deletion in the 9p24 region was insufficient to cause ambiguous genitalia because six of the nine patients had normal genitalia. We suggest that the critical region for trigonocephaly lies between 11,575 and 11,587 Mb from the chromosome 9p terminus. To the best of our knowledge, this is the minimal critical region reported for trigonocephaly in 9p deletion syndrome, and it warrants further delineation. (© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
Databáze:	MEDLINE
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