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Article

Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.

American journal of medical genetics. Part A - 1 Jul 2026

Sheth Frenny, Shah Jhanvi, Muranjan Mamta, Liehr Thomas, Padutsch Niklas, Mane Srikant, Ng Sok Meng Evelyn, Li Peining, Desai Manisha, Kansara Heny, Sheth Jayesh J, Sheth Harsh

Abstract excerpt

Molecular characterization of balanced complex chromosomal rearrangements (CCR) aids in understanding the pathophysiological mechanism and corresponding genotype-phenotype correlations. The present case describes a male child with intellectual disability, developmental delay, and dysmorphism. A thorough and sequential genetic evaluation using karyotyping, fluorescence in situ hybridization (FISH), chromosomal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41755742
DOI: 10.1002/ajmg.a.70105

Genes

NLGN4X
ALG6
LAMA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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