TY - JOUR
T1 - Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q
AU - Thomas, Janet A.
AU - Manchester, David K.
AU - Prescott, Karen E.
AU - Milner, Richard
AU - McGavran, Loris
AU - Cohen, M. Michael
PY - 1996/4/24
Y1 - 1996/4/24
N2 - 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.
AB - 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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U2 - 10.1002/(SICI)1096-8628(19960424)62:4<372::AID-AJMG9>3.0.CO;2-T
DO - 10.1002/(SICI)1096-8628(19960424)62:4<372::AID-AJMG9>3.0.CO;2-T
M3 - Article
C2 - 8723067
AN - SCOPUS:0029877874
SN - 0148-7299
VL - 62
SP - 372
EP - 375
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -