Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.
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Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangementsOrigin-dependent inverted-repeat amplification: a replication-based model for generating palindromic amplicons.Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood.Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome.17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.
P2860
Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.
description
2006 nî lūn-bûn
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Intrachromosomal triplication ...... cism of partial tetrasomy 12p.
@en
Intrachromosomal triplication ...... cism of partial tetrasomy 12p.
@nl
type
label
Intrachromosomal triplication ...... cism of partial tetrasomy 12p.
@en
Intrachromosomal triplication ...... cism of partial tetrasomy 12p.
@nl
prefLabel
Intrachromosomal triplication ...... cism of partial tetrasomy 12p.
@en
Intrachromosomal triplication ...... cism of partial tetrasomy 12p.
@nl
P2093
P356
P1476
Intrachromosomal triplication ...... cism of partial tetrasomy 12p.
@en
P2093
Heike Eckel
Marianne Volleth
Peter Wieacker
Petra Muschke
Rainer Wimmer
Sibylle Jakubiczka
P304
P356
10.1002/AJMG.A.31237
P407
P577
2006-06-01T00:00:00Z