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

Authors
  • Meloni, Vera Ayres
  • Guilherme, Roberta Santos
  • Oliveira, Mariana Moyses
  • Migliavacca, Michele
  • Takeno, Sylvia Satomi
  • Sobreira, Nara Lygia Macena
  • de Fatima Faria Soares, Maria
  • de Mello, Claudia Berlim
  • Melaragno, Maria Isabel
Type
Published Article
Journal
American Journal of Medical Genetics Part A
Publisher
Wiley (John Wiley & Sons)
Publication Date
Sep 01, 2014
Volume
164A
Issue
9
Pages
2378–2384
Identifiers
DOI: 10.1002/ajmg.a.36631
PMID: 24898331
Source
Medline
Keywords
License
Unknown

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 8.5 Mb 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.

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