Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome

1992 ◽  
Vol 89 (1) ◽  
pp. 73-78 ◽  
Author(s):  
A.M. Sharkey ◽  
L. McLaren ◽  
M. Carroll ◽  
J. Fantes ◽  
D. Green ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Dna Markers ◽  
Digeorge Syndrome ◽  
Chromosome 22Q11 ◽  
Human Chromosome 22Q11

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome

Genomics ◽  
1990 ◽  
Vol 7 (3) ◽  
pp. 299-306 ◽  
Author(s):  
A.H. Carey ◽  
S. Roach ◽  
R. Willamson ◽  
J.P. Dumanski ◽  
M. Nordenskiold ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Dna Markers ◽  
Digeorge Syndrome ◽  
Chromosome 22Q11 ◽  
Human Chromosome 22Q11

BID, a Proapoptotic BCL-2 Family Member, Is Localized to Mouse Chromosome 6 and Human Chromosome 22q11

Genomics ◽  
1998 ◽  
Vol 53 (2) ◽  
pp. 235-238 ◽  
Author(s):  
Kun Wang ◽  
Xiao-Ming Yin ◽  
Neal G. Copeland ◽  
Debra J. Gilbert ◽  
Nancy A. Jenkins ◽  
...  
Keyword(s):  
Human Chromosome ◽  
Family Member ◽  
Mouse Chromosome ◽  
Chromosome 6 ◽  
Chromosome 22Q11 ◽  
Human Chromosome 22Q11

scholarly journals The Organization of the γ-Glutamyl Transferase Genes and Other Low Copy Repeats in Human Chromosome 22q11

1997 ◽  
Vol 7 (5) ◽  
pp. 522-531 ◽  
Author(s):  
John E. Collins ◽  
Andrew J. Mungall ◽  
Karen L. Badcock ◽  
Joanne M. Fay ◽  
Ian Dunham
Keyword(s):  
Human Chromosome ◽  
Chromosome 22Q11 ◽  
Low Copy Repeats ◽  
Human Chromosome 22Q11 ◽  
Glutamyl Transferase

scholarly journals Two Functional Copies of the DGCR6 Gene Are Present on Human Chromosome 22q11 Due to a Duplication of an Ancestral Locus

2001 ◽  
Vol 11 (2) ◽  
pp. 208-217
Author(s):  
Lisa Edelmann ◽  
Pavel Stankiewicz ◽  
Elizabeth Spiteri ◽  
Raj K. Pandita ◽  
Lisa Shaffer ◽  
...  
Keyword(s):  
Sequence Similarity ◽  
Primate Species ◽  
Region Gene ◽  
Chromosome 22Q11 ◽  
Expression Studies ◽  
Low Copy Repeats ◽  
Duplicate Locus ◽  
Human Chromosome 22Q11 ◽  
Velo Cardio Facial Syndrome ◽  
Functional Copy

The DGCR6 (DiGeorge critical region) gene encodes a putative protein with sequence similarity to gonadal(gdl), a Drosophila melanogaster gene of unknown function. We mapped the DGCR6 gene to chromosome 22q11 within a low copy repeat, termed sc11.1a, and identified a second copy of the gene, DGCR6L, within the duplicate locus, termed sc11.1b. Both sc11.1 repeats are deleted in most persons with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), and they map immediately adjacent and internal to the low copy repeats, termed LCR22, that mediate the deletions associated with VCFS/DGS. We sequenced genomic clones from both loci and determined that the putative initiator methionine is located further upstream than originally described, but in a position similar to the mouse and chicken orthologs.DGCR6L encodes a highly homologous, functional copy ofDGCR6, with some base changes rendering amino acid differences. Expression studies of the two genes indicate that both genes are widely expressed in fetal and adult tissues. Evolutionary studies using FISH mapping in several different species of ape combined with sequence analysis of DGCR6 in a number of different primate species indicate that the duplication is at least 12 million years old and may date back to before the divergence of Catarrhines from Platyrrhines, 35 mya. These data suggest that there has been selective evolutionary pressure toward the functional maintenance of both paralogs. Interestingly, a full-length HERV-K provirus integrated into the sc11.1a locus after the divergence of chimpanzees and humans.

Chromosome 22q11 Deletion Complicated by Dissecting Pulmonary Arterial Aneurysm and Jejunal Atresia in an Infant

2000 ◽  
Vol 124 (6) ◽  
pp. 880-882
Author(s):  
Shoji Yamanaka ◽  
Yukichi Tanaka ◽  
Motoyoshi Kawataki ◽  
Rieko Ijiri ◽  
Kiyoshi Imaizumi ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Male Infant ◽  
Velocardiofacial Syndrome ◽  
Arterial Aneurysm ◽  
22Q11 Deletion ◽  
Jejunal Atresia ◽  
Chromosome 22Q11 ◽  
Apple Peel ◽  
Pulmonary Arterial ◽  
Arterial Aneurysms

Abstract We present an autopsy case of a 46-day-old male infant with chromosome 22q11 deletion, which is considered the primary cause of several diseases, including DiGeorge syndrome and velocardiofacial syndrome. The patient had 2 notable congenital abnormalities: multiple dissecting pulmonary arterial aneurysms distributed in both lungs and multiple jejunal atresia with apple-peel deformity. The former, a very rare pathologic condition especially in infancy, was found incidentally at autopsy and was the primary cause of death. To our knowledge, neither of these lesions has been reported previously in a patient with chromosome 22q11 deletion.

Localization of two new DNA markers on the linkage map of human chromosome 6q

1992 ◽  
Vol 60 (3-4) ◽  
pp. 216-218 ◽  
Author(s):  
B.C. Byth ◽  
D.R. Love ◽  
J.C. Murray ◽  
K.E. Davies
Keyword(s):  
Human Chromosome ◽  
Linkage Map ◽  
Dna Markers

Taiwanese Clinical Experience with Noninvasive Prenatal Testing for DiGeorge Syndrome

2021 ◽  
pp. 1-6
Author(s):  
Tzu-Yi Lin ◽  
T’sang-T’ang Hsieh ◽  
Po-Jen Cheng ◽  
Tai-Ho Hung ◽  
Kok-Seong Chan ◽  
...  
Keyword(s):  
High Risk ◽  
Digeorge Syndrome ◽  
Prenatal Testing ◽  
Cardiac Anomaly ◽  
Comparative Genomic ◽  
Noninvasive Prenatal Testing ◽  
Maternal Fetal Medicine ◽  
Chromosome 22Q11 ◽  
Predictive Rate

<b><i>Objective:</i></b> DiGeorge syndrome (DGS) is associated with microdeletions of chromosome 22q11. It is the second most common cause of congenital heart disease and is an important consideration whenever a conotruncal cardiac anomaly is identified. The availability of noninvasive prenatal testing (NIPT) is altering the practice of prenatal genetics and maternal-fetal medicine, resulting in a decline in invasive testing. Antenatal ultrasound and other biomarkers have their own limitation. NIPT was proposed to screen DGS with cell-free DNA in Taiwan. Here, we present our experience of prenatal diagnosis of DGS in our center. <b><i>Methods:</i></b> This was a retrospective study between November 1, 2019, and August 31, 2020, in Taiwan. Data were collected from 7,826 pregnant women self-referred for DGS screening with massive parallel shotgun sequencing-based NIPT. High-risk cases subsequently received amniocentesis for array comparative genomic hybridization (aCGH) to confirm the diagnosis. Characteristics of pregnancies were documented when participants received the test. Report of NIPT was completed 2 weeks after the test. Follow-up on high-risk cases was completed by telephone interview on January 30, 2021. <b><i>Results:</i></b> Thirteen cases showed high risk by NIPT, and 7 cases were confirmed by aCGH. The sensitivity and specificity were 100% (95% confidence interval [CI] 64.57–100.00%) and 99.92% (95% CI 99.83–99.96%). The prevalence of DGS was 1 in 1,118 pregnancies. The positive predictive rate was 53.85% (95% CI 29.14–76.79%). One true positive (TP) showed US anomaly, and 5 TPs selected termination. <b><i>Discussion/Conclusion:</i></b> NIPT demonstrated good performance in DGS screening. Detection of 22q11.2 deletion could be combined with routine screening to facilitate proper intervention.

scholarly journals Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven

1986 ◽  
Vol 14 (18) ◽  
pp. 7159-7174 ◽  
Author(s):  
P. J. Scambler ◽  
H-Y. Law ◽  
R. Williamson ◽  
C. S. Cooper
Keyword(s):  
Cystic Fibrosis ◽  
Gene Transfer ◽  
Human Chromosome ◽  
Dna Markers
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