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A cryptic deletion in 5q31.2 provides further evidence for a minimally deleted region in myelodysplastic syndromes

✍ Scribed by Ruth N. MacKinnon; George Kannourakis; Meaghan Wall; Lynda J. Campbell


Book ID
116332573
Publisher
Elsevier
Year
2011
Tongue
English
Weight
572 KB
Volume
204
Category
Article
ISSN
2210-7762

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Neural tube defects and the 13q deletion
✍ Luo, Jeffrey; Balkin, Nancy; Stewart, Julie F.; Sarwark, John F.; Charrow, Joel; πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 41 KB πŸ‘ 3 views

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