Deletion of long arms of chromosome 13
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M. KuΔerovΓ‘; Z. PolΓvkovΓ‘; M. PokornΓ‘
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Article
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1975
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Springer
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English
β 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