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Distal deletion of the long arm of chromosome 6: A specific phenotype ?

✍ Scribed by Fryns, Jean-Pierre ;Bettens, Walter ;Berghe, Herman Van Den ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
229 KB
Volume
24
Category
Article
ISSN
0148-7299

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## Abstract We report on a patient with deficiency of distal 6p and compare the clinical and cytogenetic findings in this child with those of three previously reported patients who had similar deletions. Distal del(6p) appears to be associated with a relatively non‐specific phenotype, with the poss

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We report on two patients with distal deletions of 6q. In one case a de novo translocation between chromosomes 6 and 7 resulted in del(6q2546qter). The other case had a de novo deletion, also from 6q25 to 6qter. There have been eight previous reports of distal deletions of 6q. These patients have de

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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,

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