A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: A twelve-year follow-up and literature review

Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Massimo Carella, Antonio Petracca, Agostina De Crescenzo, Leopoldo Zelante, Andrea Riccio, Maurizio de Martino

Research output: Contribution to journalArticle

Abstract

Background: Deletions on the distal portion of the long arm of chromosome 6 are relatively uncommon, and only a small number occurs in the paternal copy, causing growth abnormalities. As a result, extensive clinical descriptions are lacking. Case presentation: We describe a male of Italian descent born at 35 weeks by elective caesarean delivery presenting hypoplastic left colon, bilateral inguinal hernia, dysplastic tricuspid and pulmonary valves, premature ventricular contractions, recurrent otitis media, poor feeding, gastro-oesophageal reflux, bilateral pseudopapilledema, and astigmatism. He also showed particular facial dysmorphisms and postnatal growth failure. Early psychomotor development was mildly delayed. At 3.75 years, he was evaluated for severe short stature (-2.98 SD) and delayed bone age. He showed an insulin-like growth factor 1 concentration (IGF-1) in the low-normal range. Growth hormone stimulation tests showed a low response to clonidine and insulin. Magnetic resonance imaging showed hypophyseal hypoplasia. Genetic evaluation by Single Nucleotide Polymorphism arrays showed a de novo 6q24.2-q25.2 deletion on paternal chromosome 6. Conclusion: We confirm that this is a new congenital malformation syndrome associated with a deletion of 6q24.2-q25.2 on paternal chromosome 6. We suggest evaluating the growth hormone axis in children with 6q24.2-q25.2 deletions and growth failure.

Original languageEnglish
Article number69
JournalBMC Medical Genetics
Volume16
Issue number1
DOIs
Publication statusPublished - Aug 23 2015

Keywords

  • 6q24.2-q25.2 deletion
  • Chromosome deletion
  • Growth failure
  • Growth hormone deficiency
  • Short stature

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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