Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations

Abstract

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.

Keywords

clinical heterogeneity - copy number variations - deletion syndrome - dysmorphic facial features - intellectual disability

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.

Publikationsverlauf

Eingereicht: 01. April 2021

Angenommen: 23. Juni 2021

Artikel online veröffentlicht:
28. Juli 2021

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