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Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43
  1. THADDEUS E KELLY,
  2. SUSAN BLANTON
  1. Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA
  2. Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    1. RAMLA SAIF,
    2. SAMI A SANJAD,
    3. NADIA A SAKATI
    1. Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA
    2. Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

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      Editor—Over the past 12 years, 26 patients with an unusual syndrome of congenital hypoparathyroidism associated with severe prenatal and postnatal growth retardation and a pattern of facial anomalies have been seen at the King Faisal Specialist Hospital and Research Centre, Saudi Arabia.1 2 The disorder has been listed by McKusick in OMIM as “hypoparathyroidism-retardation-dysmorphism syndrome; HRD” as entry 241410. Recently, Parvari et al 3 reported the assignment of the gene for this disorder to chromosome 1 at 1q42-43. Their report was based on a study of consanguineous Bedouin families from Israel and their linkage analysis was based on homozygosity by descent.4 This reports describes a study of three consanguineous Saudi families, which yielded results consistent with the 1q42-43 location of the responsible gene.

      Blood samples were collected and DNA …

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