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
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
β 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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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
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