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Partial deletion of the long arm of chromosome No. 13

✍ Scribed by A. Cuschieri; P. Vassallo Agius; J. M. J. C. Scheres


Publisher
Springer
Year
1977
Tongue
English
Weight
219 KB
Volume
36
Category
Article
ISSN
0340-6717

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✦ Synopsis


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 that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discusses.


πŸ“œ SIMILAR VOLUMES


Deletion of long arms of chromosome 13
✍ M. KučerovΓ‘; Z. PolΓ­vkovΓ‘; M. PokornΓ‘ πŸ“‚ Article πŸ“… 1975 πŸ› Springer 🌐 English βš– 384 KB

The case is presented of a girl with the banded karyotype 46,XX,del(13)(q22) and a phenotype of severe mental and growth deficiency, mongoloid slant of palpebral fissures, ptosis, hypertelorism, microcephaly, microstomia, micrognathia, nystagmus, gothic palate, uvula fissa, low-set malformed ears, s