Cytogenomic delineation and clinical follow-up of two siblings with an 8.5Mb 6q24.2-q25.2 deletion inherited from a paternal insertion

Vera Ayres Meloni, Roberta Santos Guilherme, Mariana Moyses Oliveira, Michele Migliavacca, Sylvia Satomi Takeno, Nara Lygia Macena Sobreira, Maria de Fatima Faria Soares, Claudia Berlim de Mello, Maria Isabel Melaragno

Research output: Contribution to journalArticlepeer-review

Abstract

The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta.

Original languageEnglish (US)
Pages (from-to)2378-2384
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number9
DOIs
StatePublished - Sep 2014

Keywords

  • Aortic coarctation
  • Array
  • Chromosome 6
  • Clinical follow-up
  • Congenital heart disease
  • Cytogenomics
  • Interstitial deletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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