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

Autor:	J A, Thomas, D K, Manchester, K E, Prescott, R, Milner, L, McGavran, M M, Cohen
Rok vydání:	1996
Předmět:	Adult Chromosomes Human Pair 14 Male Bone and Bones Craniosynostoses Phenotype Face Intellectual Disability Arm Humans Abnormalities Multiple Female Knee Chromosome Deletion Child Growth Disorders Genes Dominant
Zdroj:	American journal of medical genetics. 62(4)
ISSN:	0148-7299
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::1c9c44eb55922a20a6ca645ba56c80da https://pubmed.ncbi.nlm.nih.gov/8723067 Zobrazit plný text záznamu Plný text