J Pediatr Genet 2023; 12(04): 342-347
DOI: 10.1055/s-0041-1732477
Case-Based Review

Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations

Chakshu Chaudhry*
1   Department of Pediatrics, Genetic Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Divya Kumari*
1   Department of Pediatrics, Genetic Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India
1   Department of Pediatrics, Genetic Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Parminder Kaur
1   Department of Pediatrics, Genetic Metabolic Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India
› Author Affiliations
Funding None.


Chromosome 1p36 deletion accounts for around 1% of cases of intellectual disability. The pattern of clinical features includes developmental delay, hypotonia, seizures, short stature, intellectual disability, vision and hearing deficits, congenital heart disease, and renal abnormalities. The size of deletion can be variable. We report four cases of 1p36 deletion syndrome detected in the past 3 years in a genetic clinic. One patient was detected by next-generation sequencing, another by chromosomal microarray, and the remaining two by multiplex ligation-dependent probe amplification. We discuss the variable presentations in the four children. Early diagnosis enables better prognostication and further reproductive planning.

Authors' Contribution

C.C.: Drafting the work and management and follow-up of patients.

D.K.: Involved in molecular analysis of patients' samples and drafting of manuscript.

I.P.: Revising the manuscript critically for important intellectual content, and follow-up of patients.

P.K.: Management and follow-up of patients.

All authors have read and approved the final version of the manuscript. All authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Ethical Approval

This article is in accordance with the Declaration of Helsinki. Written informed consent was taken from guardians of the patients for publication of images.

* These authors contributed equally to this study.

Publication History

Received: 01 April 2021

Accepted: 23 June 2021

Article published online:
28 July 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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