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

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23 Citations (Scopus)


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
Pages (from-to)123-127
Number of pages5
JournalClinical Dysmorphology
Issue number2
Publication statusPublished - Apr 2003



  • 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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