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Craniosynostosis in an infant with an interstitial deletion of 15q [46, XY,del(15)(q15q22.1)]

✍ Scribed by Fukushima, Yoshimitsu ;Wakui, Keiko ;Nishida, Toshiro ;Nishimoto, Hiroshi


Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
420 KB
Volume
36
Category
Article
ISSN
0148-7299

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We report an infant with multiple congenital anomalies, including craniosynostosis, tetralogy of Fallot variant, and limb anomalies associated with a maternal deletion of 15q15-22.1. Only two other patients have been reported with a similar deletion, but the deletion was paternal in both cases. We r