𝔖 Bobbio Scriptorium
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Partial deletion of short arm of chromosome No. 4

✍ Scribed by John W. Mace; M.D. Cunningham


Book ID
118536662
Publisher
Elsevier Science
Year
1971
Tongue
English
Weight
82 KB
Volume
78
Category
Article
ISSN
1097-6833

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Partial deletion of the long arm of chro
✍ A. Cuschieri; P. Vassallo Agius; J. M. J. C. Scheres πŸ“‚ Article πŸ“… 1977 πŸ› Springer 🌐 English βš– 219 KB

A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion tha

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Two boys (W.M. and C.P.) are described, in each of whom a short-arm deleted C chromosome was apparently present. The clinical findings on W.M. are stenosis of the sagittal sutura associated with atrophy of the nervus opticus and mental retardation, and on C.P. osteogenesis imperfecta. An analysis of