Description:
VELOCARDIOFACIAL SYNDROME
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,XY,del(22)(pter>q11.21::q11.22>qter).ish del(22)(TUPLE1-,ARSA+)
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 22 |
FISH analysis with probe N25 for the DiGeorge Syndrome critical region, D22S75, performed by Dr. Deborah Driscoll, Children's Hospital of Philadelphia, showed that this cell culture had a deletion in this region. |
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| Remarks |
Clinically affected; truncus arteriosus; ventricular septal defect; hypocalcemia; hypoparathyroidism; absence of thymic shadow; partial defect of T-lymphocyte function; two supernumerary digits of the upper extremity; micropenis; hypertelorism; low-set ears; micrognathia; cleft palate; older brother died at 3 months of age and was affected with truncus arteriosus, hypoparathyroidism, lack of thymic shadow, and dysmorphism; father has hypertelorism, micrognathia, low-set ears, relative deficiency of T-lymphocytes, and relative hypoparathyroidism. |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Mantripragada KK, Tapia-Páez I, Blennow E, Nilsson P, Wedell A, Dumanski JP, DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets International journal of molecular medicine13:273-9 2004 |
| PubMed ID: 14719134 |
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| Halford S, Lindsay E, Nayudu M, Carey AH, Baldini A, Scambler PJ, Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11. Hum Mol Genet2:191-6 1993 |
| PubMed ID: 8499906 |
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| Driscoll DA, Budarf ML, Emanuel BS, A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet50:924-33 1992 |
| PubMed ID: 1349199 |
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| Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J, Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet339:1138-9 1992 |
| PubMed ID: 1349369 |
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| Sharkey AM, McLaren L, Carroll M, Fantes J, Green D, Wilson D, Scambler PJ, Evans HJ, Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome. Hum Genet89:73-8 1992 |
| PubMed ID: 1577468 |
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| Stevens CA, Carey JC, Shigeoka AO, Di George anomaly and velocardiofacial syndrome. Pediatrics85:526-30 1990 |
| PubMed ID: 2314965 |
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| Rohn RD, Leffell MS, Leadem P, Johnson D, Rubio T, Emanuel BS, Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission. J Pediatr105:47-51 1984 |
| PubMed ID: 6737148 |
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