相似文献
1
Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.
J Med Genet. 2000 Oct;37(10):804-7. doi: 10.1136/jmg.37.10.804.
2
Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter.
J Med Genet. 2001 Dec;38(12):876-81. doi: 10.1136/jmg.38.12.876.
3
Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.
Am J Med Genet A. 2004 Sep 1;129A(3):261-4. doi: 10.1002/ajmg.a.30125.
4
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
J Med Genet. 2007 Apr;44(4):250-6. doi: 10.1136/jmg.2006.045476. Epub 2006 Dec 15.
5
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).
J Med Genet. 2000 Oct;37(10):798-804. doi: 10.1136/jmg.37.10.798.
6
Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism.
Ann Genet. 2000 Jan-Mar;43(1):39-43. doi: 10.1016/s0003-3995(00)00012-5.
7
Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.
J Med Genet. 2001 Dec;38(12):885-8. doi: 10.1136/jmg.38.12.885.
8
Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
J Med Genet. 1993 Jul;30(7):614-5. doi: 10.1136/jmg.30.7.614.
9
[Hypomelanosis of Ito in a girl with Trisomy 13 mosaicism: a cytogenetic study].
Ann Dermatol Venereol. 2003 Nov;130(11):1033-8.
10
A patient with duplication (7)(p22.1pter) characterized by array-CGH.
Am J Med Genet A. 2007 Jan 15;143A(2):168-71. doi: 10.1002/ajmg.a.31511.
引用本文的文献
1
Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report.
J Med Case Rep. 2014 May 19;8:156. doi: 10.1186/1752-1947-8-156.
Zotero 插件