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Case Reports
. 2021 Sep 16;47(1):188.
doi: 10.1186/s13052-021-01121-5.

15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

Yahya Benbouchta #  1   2 , Nicole De Leeuw #  3 , Saadia Amasdl  4 , Aziza Sbiti  4 , Dominique Smeets  5 , Khalid Sadki  6 , Abdelaziz Sefiani  4   5
Affiliations
Case Reports

15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

Yahya Benbouchta et al. Ital J Pediatr. .

Abstract

Background: 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microcephaly, intellectual disability and various congenital malformations.

Case presentation: We report on a girl, 4 years old, of consanguineous parents, with a 15q26 deletion. Clinical manifestations included failure to thrive, developmental delay, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits and protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, varus equine right foot and left club foot. Additionally, she had teething delay and divergent strabismus. Heart ultrasound displayed two atrial septal defects with left-to-right shunt, enlarging the right cavities. Routine cytogenetic analysis revealed a shortened 15q chromosome. Subsequent array analysis disclosed a terminal 9.15 Mb deletion at subband 15q26.1-q26.3. Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A.

Conclusion: We report on an additional case of 15q26 monosomy, characterized by array-CGH. Molecular cytogenetic analysis allowed us to identify the exact size of the deletion, and four candidate genes for genotype-phenotype correlation. 15q26 monosomy should be considered when growth retardation is associated with hearing anomalies and congenital heart defect, especially atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).

Keywords: 15q26 deletion; Array-CGH; CHD; Case report.

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Conflict of interest statement

The authors declare that there are no conflicts of interest.

Figures

Fig. 1
Fig. 1
High-resolution R-banded karyogram (a,c), partial RHG (b) karyogram (c) showing deletion 15q chromosome with an abnormally short q-arm. (Red arrow)
Fig. 2
Fig. 2
A. CGH-array data showing a terminal loss of 9.15 Mb in 15q26.1-q26.3 involving 93,275,228-102,429,113 breakpoints. B. UCSC genome browser assembly (GRCh37/hg19) highlighting genes involved in the loss segment
Fig. 3
Fig. 3
15q26.1-q26.3 deletions displaying the 36 missing genes together with the four genes involved in the Phenotype in our proband
See this image and copyright information in PMC

References

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