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.
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Authors | J A Thomas, D K Manchester, K E Prescott, R Milner, L McGavran, M M Cohen Jr |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 62
Issue 4
Pg. 372-5
(Apr 24 1996)
ISSN: 0148-7299 [Print] United States |
PMID | 8723067
(Publication Type: Case Reports, Journal Article, Review)
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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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