Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report

.blurhash-client-img { display: none !important; }

Open Access

|Mar 2025

Figures & Tables

Clinical characteristics	Proband 1	Proband 2	Onset
Age at first visit	11 yr. & 11 mo.	3yr. & 6 mo.
Early development	Hyperactivity	Normal
Teratoma regio sacro-coccigealis	+	+	Neonatal
Hydronephrosis / *RVU	+ (right side)	+ (left side)	Neonatal
Thrombocytopenia	+	+	Neonatal
Purpura, petechiae, bruises	+	+	Infancy
Premaxillary prominence	+	+	Toddler
Juvenile palmoplantar dermatosis	+	+	Toddler
Obesitas	+	+	Toddler
Hypo-imunoglobulinaemia	+		10 yr.
Ameloblastoma mandibulae	+		10 yr.
Intellectual disability, mild	+		6 – 7 yr.
Epilepsia	+		14 yr.
Cerebral dysmyelination (MRI)	+		17 yr.
Frontoparietal polymicrogyria (MRI)	+		17 yr.

Language: English

Page range: 87 - 93

Published on: Mar 6, 2025

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Related subjects:

© 2025 A Kovanda, O Miljanović, L Lovrečić, A Maver, A Hodžić, B Peterlin, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.