De novo interstitial deletion of chromosome 1p with absent corpus callosum--a case report.
Deletion of short arm of chromosome 1 is a rare clinical entity and there are no clearly defined phenotype. We report a case of deletion of the short arm of chromosome 1, which is believed to be the first case among the Chinese population. This baby was also found to have some Robinow Syndrome-like features as well as absent corpus callosum which have never been reported in deletion of chromosome 1p.
Sivasankaran
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S
Department of Neonatology, KK Women's & Children's Hospital, Singapore.
Ho
N K
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Knight
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D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D001842:Bone and Bones / Q000002:abnormalities; D002681:China; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002987:Clitoris / Q000002:abnormalities; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping