An 1,860 g baby girl was born spontaneously after a 38 weeks pregnancy with important foetal hypotrophy and died at 6 weeks of life. She had an inverted duplication of a small part of the short arm of chromosome 1p:46, XX, inv dup(1) (pter p31::p11p13::p31 ter). This observation is compared to three others reported in the literature with intrachromosomal duplication of 1p.
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Am J Med Genet
June 1998
Clinical Genetic Service, Department of Health, Kowloon, Hong Kong.
We describe a male patient with interstitial duplication of the short arm of chromosome 1 with breakpoints involving 1p13.1 and 1p22.1.
View Article and Find Full Text PDFAnn Genet
August 1988
Laboratoire d'Anatomie Pathologique, Cytologie, Cytogénétique, Hôpital Saint-Vincent-de-Paul, Paris.
An 1,860 g baby girl was born spontaneously after a 38 weeks pregnancy with important foetal hypotrophy and died at 6 weeks of life. She had an inverted duplication of a small part of the short arm of chromosome 1p:46, XX, inv dup(1) (pter p31::p11p13::p31 ter). This observation is compared to three others reported in the literature with intrachromosomal duplication of 1p.
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