2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Report on a Patient with a 28 Mb Chromosome 2p Duplication at 2p22.2p14 The Largest 2p Duplication Described to Date

Pdf Summary

This report discusses a patient with a rare condition called chromosome 2p duplication, which is characterized by a duplication of a specific region on chromosome 2. The patient in this report has the largest duplication of this region ever reported, spanning almost 28 million base pairs. Previously described cases of this condition have smaller duplications, with the largest being 17.49 million base pairs. Symptoms commonly associated with chromosome 2p duplication include structural cardiac defects, underdeveloped lungs, renal anomalies, visual deficits, hydrocephalus, neural tube defects, developmental delay, intellectual disability, and IGF-1 deficiency. Dysmorphic features in affected individuals can include macrocephaly, frontal bossing, low-set ears, palatal abnormalities, micrognathia, and digital anomalies.<br /><br />The patient in this report has more severe developmental delay and growth failure compared to previously reported cases. She is not sitting, walking, or talking at 21 months old and is completely dependent on a feeding tube. Her length is almost 5 standard deviations below the mean, and she has delayed bone age. Despite genetic testing, no pathogenic variants were found that could explain her condition, except for a variant of uncertain significance in the ZNF462 gene.<br /><br />This case contributes to our understanding of the phenotypic features associated with duplications in this specific region of chromosome 2. It is important information for future families and clinicians who may encounter individuals with similarly sized 2p duplications. The report also includes references to other relevant studies on chromosome 2p duplications.<br /><br />In summary, this report describes a patient with the largest duplication of chromosome 2p reported to date. The patient exhibits severe developmental delay and growth failure. Her condition overlaps with previously reported cases, but her symptoms are more severe. The report provides valuable information for clinicians and families dealing with similar duplications.

Asset Subtitle

Presenting Author - Jessica Bolen, MD; Co-Author - Kathryn Leal, MS, CGC; Co-Author - Laura S. Farach, MD;

Meta Tag

array CGH

Chromosomal Abnormalities

Cognitive Disorders

Congenital Anomaly

Gene Mapping

Genetic Testing

Microarray

Phenotype

Co-Author Kathryn Leal, MS, CGC

Co-Author Laura S. Farach, MD

Presenting Author Jessica Bolen, MD

Keywords

chromosome 2p duplication

rare condition

duplication

chromosome 2

28 million base pairs

developmental delay

intellectual disability

dysmorphic features

growth failure

ZNF462 gene