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Dilated cardiomyopathy in a 3-year-old girl with a terminal deletion, 46,XX,del(3)(q27-qter), of the long arm of chromosome 3

✍ Scribed by Hideaki Senzaki; Mika Inui; Shin-ichi Ban; Satoshi Masutani; Mofeed Morsy; Toshiki Kobayashi; Hironori Nagasaka; Nozomu Sasaki; Shunei Kyo; Yuji Yokote


Publisher
Springer
Year
2003
Tongue
English
Weight
313 KB
Volume
162
Category
Article
ISSN
0340-6997

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Terminal deletion of the long arm of chr
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We report on a terminal deletion of the long arm of chromosome 3 [46,XX,de1(3)(q27+qter)l in a female newborn infant who died 45 hours after delivery and had multiple congenital abnormalities including bilateral anophthalmia, congenital heart disease, and abnormal genitalia. The findings are compare

Terminal deletion of the long arm of chr
✍ Petersen, Birgit; Strassburg, Hans-Michael; Feichtinger, Wolfgang; Kress, Wolfra πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 8 KB πŸ‘ 3 views

Since the first patient with partial deletion of the long arm of chromosome 10 was described in 1978, another 23 cases have been reported, with the breakpoint ranging from 10q23.3-26.2. To contribute further to the delineation of the monosomy 10qter syndrome, we describe a female child who, at age 3

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We describe a malformed newborn girl with an interstitial deletion of the long arm of chromosome 2 (karyotype: 46, XX, del (2) (q31q33)). This is the first report of this particular chromosome abnormality that includes autopsy findings. Comparison with previous cases in the literature suggests that