Dataset Information

Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.

ABSTRACT: The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a patient carrying a de novo invdupde[8p] whose clinical features have not been described so far. Hence, through an extensive genotype-phenotype correlation analysis and by reviewing the dedicated scientific literature, we compared our patient's features with those reported in other patients, which allows us to place our proband's expressiveness in an intermediate area, widening the scope of the already known invdupde[8p] genotype-phenotype relationship.

SUBMITTER: Lo Bianco M

PROVIDER: S-EPMC7408450 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.

Lo Bianco Manuela M Vecchio Davide D Timpanaro Tiziana A TA Arena Alessia A Macchiaiolo Marina M Bartuli Andrea A Sciuto Laura L Presti Santiago S Sciuto Sarah S Sapuppo Annamaria A Fiumara Agata A Marino Lidia L Messina Giulia G Pavone Piero P

Brain sciences 20200715 7

The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a ...[more]

PMID: 32679641

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Dataset Information

Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.

Publications

Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.

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