Craniosynostosis in an infant with an interstitial deletion of 15q [46,XY,del(15)(q15q22.1)].
An interstitial deletion of 15q [46,XY,del(15)(q15q22.1)] was found in a malformed infant with craniosynostosis. Although the parents had normal chromosomes, the study of heteromorphic markers of chromosome 15 showed that the deleted chromosome 15 was of paternal origin. The 2 previously reported cases with an interstitial deletion of the middle portion of 15q were not complicated with craniosynostosis, and their deleted region did not include 15q15 band. The deletion of chromosome band 15q15 might be responsible for craniosynostosis.
Fukushima
Y
Y
Division of Medical Genetics, Saitama Children's Medical Center, Japan.
Wakui
K
K
Nishida
T
T
Nishimoto
H
H
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D009006:Monosomy; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging
D005819:Genetic Markers