Gene: [22q112/DGCR] DiGeorge syndrome chromosome region; DiGeorge syndrome (hypoplasia of thymus and parathyroids); velocardiofacial syndrome (conotruncal anomaly face syndrome; MIM:192430); [DGS CATCH22 ]
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PAT |
DiGeorge syndrome is a developmental field defect involving the third and fourth pharyngeal arches. It is characterized by cardiac defects (conotruncal cardiac malformations) and aplasia or hypoplasia of the thymus and parathyroid glands." |
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FAG |
The candidate genes for DiGeorge syndrome and velocardiofacial syndrome are: GEM:22q112/HIRA; GEM:22q112/DGCR2; GEM:22q112/DGCR6; GEM:22q112/UFD1L; 22q112/CLTD; GEM:22q112/CDC45L." |
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REF |
LOC,CYG "Cannizzaro, Emanuel: CCG, 39, 179-183, 1985 ABR,PAT "Carlson C &: AJHG, 60, 851-859, 1997 LOC,CYG "de la Chapelle A &: Hum Genet, 57, 253-256, 1981 PHE,FOG "DiGeorge AM: (in) Immunol Def Dis, NY, Nation Found, 116-123, 1968 ABR,PAT "Driscoll DA &: Am J Med Genet, 44, 261-268, 1992 LOC,CYG "Faed MJ &: J Med Genet, 24, 225-234, 1987 LOC,CYG "Greenberg F &: AJHG, 43, 605-611, 1988 LOC,CYG "Greenberg F &: Hum Genet, 65, 317-319, 1984 LOC,CYG "Kelley RI &: J Pediatr, 101, 197-200, 1982 ABR,PAT "Kelly D &: Am J Med Genet, 45, 308-312, 1993 LOC,CYG "Mascarello JT &: Am J Med Genet, 32, 112-114, 1989 TER "Miller &: Am J Dis Child, 137, 438-440, 1983 ABR,PAT "Morrow B &: AJHG, 56, 1391-1403, 1995 ABR,PAT "Nickel RE &: Am J Med Genet, 52, 445-449, 1994 PHE,FOG "Rohn &: J Pediatr, 105, 47-51, 1984 ASS,ABR,PAT "Scambler PJ &: Lancet, 339, 1138-1139, 1992 PHE,FOG "Winter &: Eur J Pediatr, 141, 171-172, 1984 |
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KEY |
imm, horm, card, devd, face |
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CLA |
unknown, basic |
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LOC |
22 q11.2 |
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MIM |
MIM: 188400 |
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SYN |
DGS CATCH22 |
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