A common region of 10p deleted in digeorge and velocardiofacial syndromes

ABSTRACT DiGeorge (DGS, MIM 188400) and velocardiofacial (VCFS, MIM 192430) syndromes may present many clinical problems including cardiac defects, hypoparathyroidism, T-cell

immunodeficiency and facial dysmorphism1. They are frequently associated with deletions within 22q11.2, but a number of cases have no detectable molecular defect of this region2,3. A number

of single case reports with deletions of 10p suggest genetic heterogeneity of DGS. Here we compare the regions of hemi-zygosity in four patients with terminal deletions of 10p (one patient

diagnosed as having hypoparathyroidism and three as DGS) and one patient with a large interstitial deletion (diagnosed as VCFS). Fluorescence _in situ_ hybridization (FISH) analysis

demonstrates that these patients have overlapping deletions at the 10p13/10p14 boundary. A YAC contig spanning the shortest region of deletion overlap (SRO) has been assembled, and allows

the size of SRO to be approximated to 2 Mb. As with deletions of 22q11, phenotypes vary considerably between affected patients. These results strongly support the hypothesis that

haploinsufficiency of a gene or genes within 10p (the DGSII locus) can cause the DGS/VCFS spectrum of malformation. Access through your institution Buy or subscribe This is a preview of

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DUPLICATION IN A PATIENT WITH INTELLECTUAL DISABILITY Article Open access 10 November 2022 REFERENCES * Wilson, D.I., Burn, J., Scambler, P. & Goodship, J. Syndrome of the month:

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Author notes * Tony Lipson: deceased AUTHORS AND AFFILIATIONS * Molecular Medicine Unit, Institute of Child Health, 30, Guilford St., London, WC1N 1EH, UK Sara C.M. Daw, Catherine Taylor, 

Matthew Kraman & Peter Scambler * Genome Therapeutics Corporation, 100 Beaver St., Waltham, Massachusetts, 02154, USA Kathy Call & Jen-i Mao * Abteilungfur pädiatrische Genetik,

Ludwig-Maximiliäns-Universitat, Goethestrasse 29, 80336, Munchen, Germany Simone Schuffenhauer & Thomas Meitinger * Department of Genetics, Royal Alexandra Hospital for Children, FOB

3515, Parramatta, NSW2124, Australia Tony Lipson * Division of Human Genetics, University of Newcastle, 19 Claremont Place, Newcastle-upon-Tyne, NE2 4AA, UK Judith Goodship Authors * Sara

C.M. Daw View author publications You can also search for this author inPubMed Google Scholar * Catherine Taylor View author publications You can also search for this author inPubMed Google

Scholar * Matthew Kraman View author publications You can also search for this author inPubMed Google Scholar * Kathy Call View author publications You can also search for this author

inPubMed Google Scholar * Jen-i Mao View author publications You can also search for this author inPubMed Google Scholar * Simone Schuffenhauer View author publications You can also search

for this author inPubMed Google Scholar * Thomas Meitinger View author publications You can also search for this author inPubMed Google Scholar * Tony Lipson View author publications You can

also search for this author inPubMed Google Scholar * Judith Goodship View author publications You can also search for this author inPubMed Google Scholar * Peter Scambler View author

publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Daw, S., Taylor, C., Kraman, M.

_et al._ A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. _Nat Genet_ 13, 458–460 (1996). https://doi.org/10.1038/ng0896-458 Download citation * Received: 11 March

1996 * Accepted: 02 May 1996 * Issue Date: 01 August 1996 * DOI: https://doi.org/10.1038/ng0896-458 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this

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