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New microdeletion syndromes

Ingeborg Barišić ; Klinika za dječje bolesti Zagreb
Leona Morožin Pohovski ; Klinika za dječje bolesti Zagreb

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The widespread use of chromosome microarray analysis (CMA) has led to the detection of previously unrecognized microdeletion
and microduplication syndromes often caused by nonallelic homologous recombination between blocks of segmental duplication.
In this review, we provide clinical and molecular cytogenetic description of the more recently described microdeletion syndromes
with well delineated clinical phenotype: 17q21.31 deletion syndrome, 22q13.3 deletion syndrome, 15q24 deletion syndrome and
9q34.3 deletion syndrome. As some microdeletions/microduplications are described in individuals with normal phenotype,
additional studies are necessary to further evaluate their clinical spectrum and penetrance. Genetic counseling is required for all
tested families, especially in view of the presence of copy number variants of uncertain clinical consequences, incomplete
penetrance, or variable expressivity.

Ključne riječi
chromosome deletion; DNA copy number variations; segmental duplications; chromosomes, human, pair 9; chromosomes, human, pair 15; chromosomes, human, pair 17; chromosomes, human, pair 22; intellectual disability – diagnosis; intellectual disability – genetics*; abnormalities, multiple – diagnosis*; abnormalities, multiple – genetics*; child development disorders, pervasive – genetics*

Hrčak ID: 119850



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