Deletion of long arms of chromosome 13
- 1 September 1975
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 27 (3) , 255-257
- https://doi.org/10.1007/bf00278355
Abstract
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 insipidus. Both parents have a normal phenotype and karyotype.Keywords
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