Chromosome Location: 22q11
Genetic changes associated with the phenotype:
(1) supernumerary chromosome +der(22)t(11;22)(q23;q11)
(2) supernumerary chromosome +der(22)t(11;22)(q23;q11) plus balanced translocation (11;22)
A parent who is a carrier for a balanced t(11;22)(q23;q11.2) translocation can have an offspring with der(22) if there is a 3:1 meiotic non-disjunction.
Clinical findings may include:
(1) anal stenosis or atresia
(2) pre-auricular skin tags or pits
(3) mental retardation
(4) micrognathia
(5) variable congenital heart disease
(6) variable genitourinary anomalies (hypospadias, renal agenesis, vesiculourethral reflux, etc)
(7) cleft or high-arched palate
(8) microcephaly
(9) failure to thrive
(10) ear anomalies
Features of CES not seen with der(22):
(1) ocular colobomata
(2) microphthalmia
(3) total anomalous pulmonary venous return
