Duplication of chromosome 1q32.1q44: presented with ventriculomegaly and transient myeloproliferative disorder of the newborn
This case study highlights the importance of pooling cases with similar locations of duplication, segment size, and related chromosomal deficiency together to understand distinct clinical phenotypes.
Authors
- M. Elizabeth McCready (ORCID: https://orcid.org/0000-0002-7952-2279)
- Ipsita Goswami (ORCID: https://orcid.org/0000-0003-4677-6456)
- Medha Goyal (ORCID: https://orcid.org/0000-0002-3231-2231)
- Vicky Rowena Breakey (ORCID: https://orcid.org/0000-0001-5168-0243)
- Małgorzata J.M. Nowaczyk
Institutions
- McMaster Children's Hospital (CA)
- McMaster University (CA)
Publication Details
- Journal
- Case Reports in Perinatal Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1515/crpm-2024-0031
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00