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An interstitial deletion of the long arm of chromosome 13

✍ Scribed by B. Roland; R. B. Lowry; A. S. Robertson; D. M. Cox


Book ID
115089882
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
431 KB
Volume
35
Category
Article
ISSN
0009-9163

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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