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Deletion long arm 13

✍ Scribed by J. Nielsen; A. Homma; F. Christiansen; K. Rasmussen; P. Saldaña-Garcia

Publisher
Springer
Year
1977
Tongue
English
Weight
268 KB
Volume
37
Category
Article
ISSN
0340-6717

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Deletion of long arms of chromosome 13
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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

Partial deletion of the long arm of chro
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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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