J Pediatr Genet 2021; 10(02): 131-138
DOI: 10.1055/s-0040-1708554
Case Report

Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

1   Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
,
Ghada Y. El-Kamah
1   Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
,
Alaa K. Kamel
2   Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
,
Sally G. Abd Allah
2   Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
,
Sayda Hammad
2   Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
,
Mohammed M. Sayed-Ahmed
1   Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
,
Shymaa H. Hussein
2   Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
,
Amal M. Mohamed
2   Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
› Author Affiliations
Funding None.

Abstract

Paternal microduplication of 11p14.3-p15.5 causes the clinical manifestations of Beckwith–Wiedemann syndrome (BWS), while microdeletion of 18q23-ter is clinically characterized by short stature, congenital malformations, and developmental delay. We describe a 15-month-old girl presenting with protruding tongue, dysmorphic facial features, moderate developmental delay, umbilical hernia, hypotonia, mild-to-moderate pulmonary hypertension, small patent ductus arteriosus, and mild ventricular septal hypertrophy. Brain magnetic resonance imaging showed mild atrophic changes. Chromosomal analysis revealed 46, XX, add(18)(q23). Fluorescence in situ hybridization using subtelomere 18q and whole chromosome painting 18 showed subtelomere deletion in 18q, and the add segment was not derived from chromosome 18. Microarray-based comparative genomic hybridization detected a 22 Mb duplication of chromosome 11p15.5p14.3 and a 3.7 Mb deletion of chromosome 18q23. The phenotype of the chromosomal rearrangements is probably resulted from a combination of dosage-sensitive genes. Our patient had clinical manifestations of both 18q deletion and BWS.



Publication History

Received: 10 November 2019

Accepted: 17 February 2020

Publication Date:
21 April 2020 (online)

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