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Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion

โœ Scribed by Can Huang; Yi-Feng Yang; Ni Yin; Jin-Lan Chen; Jian Wang; Hong Zhang; Zhi-Ping Tan


Book ID
116508740
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
345 KB
Volume
498
Category
Article
ISSN
0378-1119

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Neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q-syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and