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Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15

โœ Scribed by Youji Takeda; Atsushi Baba; Fumihiro Nakamura; Masumi Ito; Hiroshi Honma; Tsukasa Koyama

Book ID
117832267
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
831 KB
Volume
9
Category
Article
ISSN
1059-1311

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Inverted duplication of the distal short
Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele
โœ Kennedy, Debra; Silver, Meredith M.; Winsor, Elizabeth J.T.; Toi, Ants; Provias, ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 18 KB ๐Ÿ‘ 3 views

A fetus with lobar holoprosencephaly and lumbosacral meningomyelocele associated with duplication of the short arm of chromosome 3 is reported. The anomalies were detected on fetal ultrasound at 20 weeks' gestation and the autopsy findings correlated well with the prenatal findings. The fetal karyot