Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.
Graziani L; Genovese S; Genovesi ML; Di Rosa C; Di Noi R; Loddo S; Bengala M; Colona VL · 2025 · Molecular cytogenetics
WASTE classifies this as Failed Experiment Report · AI classification, approximate
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Abstract (excerpt)
Background Monosomy 18p (MIM: 146390) is a well-known chromosomal disorder associated with intellectual disability, short stature, and non-specific craniofacial features resulting from partial or total deletion of the short arm of…
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Metadata source: Europe PMC · DOI 10.1186/s13039-025-00732-5