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Duplication 9p and their implication to phenotype.

Roberta Santos Guilherme1, Vera Ayres Meloni2, Ana Beatriz Alvarez Perez3

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Trisomy 9p, a common newborn condition, involves chromosome 9p duplication. This study details clinical and cytogenomic findings in five patients, highlighting complex rearrangements and associated genetic alterations.

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Area of Science:

  • Genetics
  • Human Genetics
  • Chromosomal Abnormalities

Background:

  • Trisomy 9p is a frequent partial trisomy in newborns.
  • This study investigates clinical features and cytogenomic findings in five patients with 9p duplication.
  • Three patients had alterations involving the 9p centromere.

Purpose of the Study:

  • To characterize the cytogenomic findings in patients with complete 9p duplication.
  • To correlate genotype with phenotype in cases of trisomy 9p.
  • To explore the predisposition of chromosome 9 to rearrangements.

Main Methods:

  • G-banding
  • Single Nucleotide Polymorphism (SNP)-array
  • Fluorescent In Situ Hybridization (FISH)

Main Results:

  • Reported five patients with various chromosome rearrangements leading to 9p duplication.
  • Identified de novo dicentric chromosomes (der(9;15) and der(9;21)) and a complex rearrangement involving a derivative chromosome 12 and an isochromosome 9p.
  • Described two siblings with inherited der(18)t(9;18)mat, resulting in 9p duplication and 18p deletion.

Conclusions:

  • Patients with trisomy 9p exhibit a recognizable facial phenotype, but genotype-phenotype correlation is challenging due to concurrent partial monosomies.
  • Chromosome 9's susceptibility to illegitimate recombination, particularly in pericentromeric regions, predisposes it to rearrangements.
  • High sequence identity in chromosome 9's segmental duplications with chromosomes 15p, 18p, and 21p may contribute to these rearrangements.