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Interstitial Deletion of the Long Arm of Chromosome 13 and Retinoblastoma

✍ Scribed by Shozo Ohdo; Tohru Sonoda; Harumichi Madokoro; Kunio Hayakawa


Book ID
118710949
Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
382 KB
Volume
26
Category
Article
ISSN
1328-8067

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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