Gene: [22q112/DGCR] DiGeorge syndrome chromosome region; DiGeorge syndrome (hypoplasia of thymus and parathyroids); velocardiofacial syndrome (conotruncal anomaly face syndrome; MIM:192430); [DGS CATCH22 ]

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."

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."

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

KEY

imm, horm, card, devd, face

CLA

unknown, basic

LOC

22 q11.2

MIM

MIM: 188400

SYN

DGS CATCH22

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