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

Overview
Journal J Pediatr Genet
Publisher Thieme
Specialty Pediatrics
Date 2021 May 17
PMID 33996184
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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.

References
1.
Mussa A, Russo S, De Crescenzo A, Chiesa N, Molinatto C, Selicorni A . Prevalence of Beckwith-Wiedemann syndrome in North West of Italy. Am J Med Genet A. 2013; 161A(10):2481-6. DOI: 10.1002/ajmg.a.36080. View

2.
Mikhail F, Sathienkijkanchai A, Robin N, Prucka S, Biggerstaff J, Komorowski J . Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter). Am J Med Genet A. 2007; 143A(15):1760-6. DOI: 10.1002/ajmg.a.31821. View

3.
Barisic I, Boban L, Akhmedzhanova D, Bergman J, Cavero-Carbonell C, Grinfelde I . Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe. Eur J Med Genet. 2018; 61(9):499-507. DOI: 10.1016/j.ejmg.2018.05.014. View

4.
Wangler M, An P, Feinberg A, Province M, DeBaun M . Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband. Am J Med Genet A. 2005; 137(1):16-21. PMC: 3947567. DOI: 10.1002/ajmg.a.30827. View

5.
Kambouris M, Maroun R, Ben-Omran T, Al-Sarraj Y, Errafii K, Ali R . Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. Orphanet J Rare Dis. 2014; 9:80. PMC: 4070100. DOI: 10.1186/1750-1172-9-80. View