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Interstitial deletion of the long arm of chromosome 4, del(4)(q28→q31.3)

✍ Scribed by Copelli, Silvia ;Rey, Graciela Del ;Heinrich, Juan ;Coco, Roberto

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 248 KB
Volume: 55
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320550120

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✦ Synopsis

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 folds; apparently low-set abnormal ears; broad nasal bridge; micrognathia; hypoplastic nails; delayed psychomotor development; and mild mental retardation.

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