CC HPO: Haploinsufficiency femme mature sex the TBX1 gene in particular is responsible for most of the physical malformations.
22q11.2 Deletion Disorders (DiGeorge Syndrome and Velocardiofacial Syndrome)
Syndrome is evidence that point mutations in the TBX1 gene can also cause the disorder. The del22q11 syndrome is associated with a highly digeorge phenotype despite the uniformity of the chromosomal deletion that causes the syndrome in most patients.
Less frequent features included microcephaly, mental retardation, short stature, slender hands and digits, minor auricular anomalies, and inguinal hernia.
The Pierre Robin syndrome was present in 4.
DiGeorge syndrome - Wikipedia
The heart malformation was cardio often ventricular velo defect. In the group studied, mother and daughter were affected in 2 instances, mother and son in 1, and mother and both daughter and son in 1.
Fitch found small optic discs with tortuous vessels in an affected 6-year-old girl, the offspring of first-cousin parents. The mother had the same heart lesion, tetralogy of Fallot totally corrected by surgery at age 12 facialand a large submucous cleft palate causing nasal voice.