Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia

Eva Morava, Oliver Bartsch, Márta Czakó, Arleta Frensel, Vera Kalscheuer, Judit Kárteszi, György Kosztolányi

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

We report a 14-month-old girl with submucous cleft palate, resolving mild hydrocephalus, severe hypotonia and joint contractures. The finding of extreme hydrocephalus, cleft palate and club feet in a fetus of the mother's previous pregnancy suggested an inherited defect. Chromosome analysis and FISH studies in the proband revealed an abnormal homolog 13 resulting in a duplication of distal chromosome 7q, 7q35-qter, and a very small associated deletion of distal chromosome 13q, 13q34-qter. The mother showed the balanced translocation. Similar clinical signs have been described with larger distal 7q duplications. Our findings suggest that 7q35-qter, and possibly the gene for sonic hedgehog (SHH) on 7q36, is the critical region for the typical facial features and the profound hypotonia observed in the 'trisomy of distal 7q' syndrome.

Original languageEnglish (US)
Pages (from-to)123-127
Number of pages5
JournalClinical Dysmorphology
Volume12
Issue number2
DOIs
StatePublished - Apr 2003

Keywords

  • Chromosome 7q
  • Cleft palate
  • Hydrocephalus
  • Joint contractures
  • Severe hypotonia
  • Terminal duplication

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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