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Deletion of long arms of chromosome 13

✍ Scribed by M. Kučerová; Z. Polívková; M. Pokorná

Publisher
Springer
Year
1975
Tongue
English
Weight
384 KB
Volume
27
Category
Article
ISSN
0340-6717

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✦ Synopsis

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, short fingers, pedes excavati, dislocation of hips and diabetes insipidis. Both parents have a normal phenotype and karyotype.

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