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Can I read Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation on EtoBox?
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation by David B. Everman; Chad T. Morgan; Robert Lyle; Mary E. Laughridge; Michael J. Bamshad; Katie B. Clarkson; Randall Colby; Fiorella Gurrieri; A. Micheil Innes; Jacquelyn Roberson; Connie Schrander‐Stumpel; Hans van Bokhoven; Stylianos E. Antonarakis; Charles E. Schwartz is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation about?
## Abstract Split‐hand/foot malformation (SHFM), or ectrodactyly, is characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM occurs as both an isolated finding and a component of many syndromes. SHFM is a heterogeneous condition caused by multiple loci, including SHFM1 (chromosome region 7q21‐q22), SHFM2 (Xq26), SHFM3 (10q24), SHFM4 (3q27), and SHFM5 (2q31). Mutations in __TP63__ at the SHFM4 locus are known to underlie both syndromic and non‐syndromic forms SHFM, but the causes of most non‐syndromic SHFM cases remain unknown. The recent identification of submicroscopic tandem chromosome duplications affecting the SHFM3 locus in seven families with non‐syndromic SHFM has helped to further unravel the molecular basis of this malformation. In our ongoing studies of the SHFM3 locus in 44 additional cases of syndromic and non‐syndromic SHFM, we have identified similar chromosome rearrangements in eight additional cases (18%), using pulsed‐field gel electrophoresis (PFGE). We have also utilized real‐time quantitative PCR (qPCR) to test for the duplications. Seven of the cases with rearrangements
Who reads Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation?
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- Author
- David B. Everman; Chad T. Morgan; Robert Lyle; Mary E. Laughridge; Michael J. Bamshad; Katie B. Clarkson; Randall Colby; Fiorella Gurrieri; A. Micheil Innes; Jacquelyn Roberson; Connie Schrander‐Stumpel; Hans van Bokhoven; Stylianos E. Antonarakis; Charles E. Schwartz
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)
- Published
- 2006
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)