Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome

Donatella Milani, Giulia Anna Cagnoli, Marco Baccarin, Enrico Alfei, Silvana Guerneri, Susanna Esposito

Research output: Contribution to journalArticle

Abstract

Deletions on chromosome 6q are rarely reported in the literature, and genotype-phenotype correlations are poorly understood. We report a child with a deletion of the 6q21-q22 chromosomal region, providing some intriguing results about the correlation between this region and acro-cardio-facial syndrome, congenital heart disease, split hand and foot malformation, and epilepsy.

Original languageEnglish
Pages (from-to)187-189
Number of pages3
JournalCongenital Anomalies
Volume56
Issue number4
DOIs
Publication statusPublished - Jul 1 2016

Keywords

  • 6q21-q22 deletion
  • acro-cardio-facial syndrome
  • chromosome 6
  • epilepsy
  • NUS1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology

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