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A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4

✍ Scribed by Beall, Marie H. ;Falk, Rena E. ;Ying, Kuang-Lin ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
299 KB
Volume
31
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,

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Interstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic fold

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We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21. 22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, postaxial polydactyly of the right foot, micrope