Molecularly defined interstitial tandem duplication 6p case with mild manifestations.
An interstitial tandem duplication of 6p21.1-p22.2 was found in a girl at 11 months of age when she was evaluated for developmental delay. Previous cases reported with partial 6p duplication usually have involved terminal duplications, with breakpoints ranging from 6p11 to 6p25. Our patient exhibits...
Κύριοι συγγραφείς: | Ng, D, Mowrey, P, Ragoussis, J, Mirza, G, Coll, E, Fazio, D, Turner, C, Levin, S |
---|---|
Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
2001
|
Παρόμοια τεκμήρια
Παρόμοια τεκμήρια
-
Evolution of CpG-islands by means of tandem duplications
ανά: V. N. Babenko, κ.ά.
Έκδοση: (2017-02-01) -
MOLECULAR CHARACTERIZATION OF 2 CASES WITH INTERSTITIAL 6P DELETIONS
ανά: Ragoussis, I, κ.ά.
Έκδοση: (1995) -
Barnacle: detecting and characterizing tandem duplications and fusions in transcriptome assemblies
ανά: Swanson, Lucas, κ.ά.
Έκδοση: (2013) -
Codes correcting bursts of deletions/insertions and tandem duplications
ανά: Nguyen, Tuan Thanh
Έκδοση: (2018) -
Sorting by reversals, block interchanges, tandem duplications, and deletions
ανά: Bader Martin
Έκδοση: (2009-01-01)