Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization

Journal Article · Sun Aug 01 04:00:00 EDT 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1339· OSTI ID:7009724

Lindsay, E A ^[1]; Halford, S; Wadey, R; Scambler, P J ^[2]; Baldini, A ^[3]

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1. St. Mary's Hosptial, London (United Kingdom) Imperial Cancer Research Fund, London (United Kingdom)
2. St. Mary's Hospital, London (United Kingdom)
3. Instituto di Genetica Molecolare del CNR, Alghero (Italy)

DiGeorge syndrome (DGS) is a developmental defect characterized by cardiac defects, facial dysmorphism, and mental retardation. Several studies have described a critical region for DGS at 22q11, within which the majority of DGS patients have deletions. The authors have isolated nine cosmid and three YAC clones using previously described and newly isolated probes that have been shown to be deleted in many DGS patients. Using fluorescence in situ hybridization and digital imaging, they have mapped and ordered these clones relative to the breakpoints of two balanced translocations at 22q11 (one in a DGS patient and one in the unaffected parent of a DGS child). The data indicate that the breakpoint in the unaffected individual distally limits the DGS critical region (defined as the smallest region of overlap), while proximally the region is limited by repeat-rich DNA. The critical region includes the balanced translocation breakpoint of the DGS patient that presumably disrupts the gene causing this syndrome.

• OSTI ID: 7009724
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 17:2; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
CONGENITAL MALFORMATIONS
DNA HYBRIDIZATION
GENETIC MAPPING
HUMAN CHROMOSOME 22
HUMAN CHROMOSOMES
HYBRIDIZATION
MALFORMATIONS
MAPPING
MENTAL DISORDERS
PATHOGENESIS
PATHOLOGICAL CHANGES