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Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve

✍ Scribed by Horigome, Hitoshi ;Takano, Takako ;Hirano, Takeki ;Kajima, Takako ;Ohtani, Shin-Ichi


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
332 KB
Volume
38
Category
Article
ISSN
0148-7299

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## Abstract We describe a 3‐year‐old male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently low‐set and posteriorly angulated ears, micrognathia, cardiac defects,