Skip to main content
padlock icon - secure page this page is secure

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

Buy Article:

$59.00 + tax (Refund Policy)

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. © 2014 Wiley Periodicals, Inc.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: aortic coarctation; array; chromosome 6; clinical follow‐up; congenital heart disease; cytogenomics; interstitial deletion

Document Type: Research Article

Publication date: September 1, 2014

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more