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Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.

Abstract
Hunter-McAlpine syndrome is an autosomal dominant disorder consisting of variable manifestations including craniosynostosis, almond-shaped palpebral fissures, small mouth, mild acral-skeletal anomalies, short stature, and mental deficiency. We report on a 9-year-old boy with this phenotype with more severe skeletal abnormalities than previously described. Chromosomes showed del(17)(q23.1-->q24.2); the more severe phenotype may be explained by the deletion. The deletion also suggests the possibility that the gene for Hunter-McAlpine syndrome might map to that region.
AuthorsJ A Thomas, D K Manchester, K E Prescott, R Milner, L McGavran, M M Cohen Jr
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 62 Issue 4 Pg. 372-5 (Apr 24 1996) ISSN: 0148-7299 [Print] United States
PMID8723067 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Abnormalities, Multiple (genetics)
  • Adult
  • Arm (abnormalities)
  • Bone and Bones (abnormalities)
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 14
  • Craniosynostoses (genetics)
  • Face (abnormalities)
  • Female
  • Genes, Dominant
  • Growth Disorders (genetics)
  • Humans
  • Intellectual Disability (genetics)
  • Knee (abnormalities)
  • Male
  • Phenotype

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