Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11
about
Microduplication and triplication of 22q11.2: a highly variable syndrome.Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.Genomic disorders on 22q11Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locusDetailed analysis of 22q11.2 with a high density MLPA probe setA method for accurate detection of genomic microdeletions using real-time quantitative PCR.Evidence for involvement of GNB1L in autism.A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer.Palindrome-mediated chromosomal translocations in humans.The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.Supportive evidence for reduced expression of GNB1L in schizophrenia.AT-rich palindromes mediate the constitutional t(11;22) translocation.Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) familiesA common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22)AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.Derivative 11;22 (emanuel) syndrome: a case report and a review.Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.The schizophrenia/bipolar disorder candidate gene GNB1L is regulated in human temporal cortex by a cis-acting element located within the 3'-region.Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10].
P2860
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P2860
Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
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1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11
@ast
Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11
@en
type
label
Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11
@ast
Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11
@en
prefLabel
Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11
@ast
Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11
@en
P2093
P2860
P50
P356
P1476
Der(22) syndrome and velo-card ...... of overlap on chromosome 22q11
@en
P2093
L Cannizzaro
L Edelmann
R K Pandita
P2860
P304
P356
10.1086/302284
P407
P577
1999-03-01T00:00:00Z