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

ABSTRACT:

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 chromosom

SUBMITTER: Mohamed AM 

PROVIDER: S-EPMC8606205 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature