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Deletion of the long arm of chromosome 7 in lipoma

✍ Scribed by Paola Dal Cin; Herman Van Den Berghe; Raf Sciot; Ivo De Wever


Book ID
114136122
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
448 KB
Volume
96
Category
Article
ISSN
0165-4608

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Deletions of the long arm of chromosome
✍ Shapiro, Steven D. ;Hansen, Kathryn L. ;Pasztor, Linda M. ;DiLiberti, John H. ;J πŸ“‚ Article πŸ“… 1985 πŸ› John Wiley and Sons 🌐 English βš– 792 KB
Deletion of long arms of chromosome 13
✍ M. KučerovΓ‘; Z. PolΓ­vkovΓ‘; M. PokornΓ‘ πŸ“‚ Article πŸ“… 1975 πŸ› Springer 🌐 English βš– 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