Tetralogy of Fallot

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
25109822
 MIXED_SAMPLE Adult
408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: a genetic counseling dilemma in paternal carrier status.
Tonni G, Bellotti M, Palmisano M, Alesi V, Bertoli M, Bonasoni MP.
Congenit Anom (Kyoto). 2015;55(1):65-70.
4088201kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: a genetic counseling dilemma in paternal carrier status.
25109822
 MIXED_SAMPLE Adult
408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: a genetic counseling dilemma in paternal carrier status.
Tonni G, Bellotti M, Palmisano M, Alesi V, Bertoli M, Bonasoni MP.
Congenit Anom (Kyoto). 2015;55(1):65-70.
Follow up scan at 16 and 18 weeks of gestation confirmed the severe exomphalos and detected micrognathia and tetralogy of Fallot.
14755408
 FEMALE Adult
Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4.
Chen CP, Chern SR, Lee CC, Chang TY, Wang W, Tzen CY.
Prenat Diagn. 2004;24(1):38-44.
Phenotypic findings included tetralogy of Fallot, hypertelorism, micrognathia, abnormal ears, duplicated phalanges of the left thumb, clinodactyly, and overlapping of the toes.
10459356
 MIXED_SAMPLE
Early onset of gastric carcinoma and constitutional deletion of 18p.
Dellavecchia C, Guala A, Olivieri C, Haintink O, Cadario F, Luinetti O, Fiocca R, Minelli A, Danesino C, Bona G.
Cancer Genet Cytogenet. 1999;113(1):96-9.
The phenotype of the patient, including microcephaly, ptosis, micrognathia, tetralogy of Fallot, and mental retardation, fits well with previously reported cases of del(18p); she also showed a positive serology against Helicobacter pylori.
1845646
 MIXED_SAMPLE Infant, Newborn
[Di George syndrome].
Urrejola P, Cattani A, Heusser F, Talesnik E.
Rev Chil Pediatr. 1991;62(6):381-5.
Their main clinical symptoms were hypocalcemic convulsions, unusual facies (hyperthelorism, low set prominent ears, micrognathia, short philtrum) and cardiac malformations (vascular ring with right aortic arc, aberrant left innominated artery and ligamentum arteriosus in one of them and Tetralogy of Fallot with pulmonary valve atresia in the other).
2714786
 MALE Infant
Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.
Lundbech PE, Thogersen T.
Hum Genet. 1989;82(1):92-3.
He showed developmental retardation, low-set ears, micrognathia, short, neck, abundant skin of the neck, tetralogy of Fallot, bipartite labialike scrotum, clitorislike penis, cryptorchism, and deformities of the hands and feet.
511168
 FEMALE Infant
A low frequency mosaicism for monosomy 21 in a live born female.
Lee M, Rose D, Lazzarini A, Rajendra BR, Sciorra LJ.
Hum Genet. 1979;51(3):343-7.
The patient's physical features included microcephaly with frontal slanting; prominent occiput; ridge-shaped sutures; agenesis of the corpus callosum; large, prominent ears; high and narrow palate; micrognathia; tetralogy of Fallot; crowded toes; and dry, thick skin with very little subcutaneous tissue.