Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Regional duplications > dup(22)(q11)

dup(22)(q11)

MIM.115470

Saturday 30 December 2006

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).

Autosomal dominant trnsmission

Synopsis

-  micrognathia
- preauricular pits
- preauricular tags
- low-set ears
- stenotic external auditory canal
- hypertelorism
- down-slanting palpebral fissures
- coloboma of iris
- coloboma of choroid
- coloboma of retina
- microphthalmos
- cleft palate
- congenital heart defects
- total anomalous pulmonary venous return

- biliary atresia
- malrotation of gut
- anal atresia with fistula
- agenesis of uterus

- renal agenesis
- radial aplasia
- normal to mild mental retardation

- anal atresia with rectovesical fistula or rectovagina fistula or rectovulvar fistula or rectourethral fistula or rectoperineal fistula
- coloboma of the iris
- uni- or bilateral and total or (rarely) partial coloboma of the choroid and/or optic nerve
- microphthalmia (almost always unilateral)
- cleft palate
- congenital heart malformations

- renal malformations

  • absence of 1 or both kidneys
  • hydronephrosis
  • supernumerary kidneys
  • renal hypoplasia

- hernias
- reduction of the auricles to several tags
- atresia of the external auditory canal

- aniridia
- corneal clouding
- coloboma of eyelids
- cataract
- Duane anomaly
- craniofacial malformations

  • choanal atresia
  • skin tags on the cheeks
  • hypothalamic growth hormone deficiency
  • cleft lip and palate

- limb malformations

  • radial aplasia
  • duplication of the hallux
  • absent toes
  • sirenomelia

- thoracic and abdominal malformations

  • absence or synostosis of ribs
  • vertebral fusions
  • Eisenmenger complex
  • pulmonary segmentation defects
  • malrotation of the gut
  • Meckel diverticulum
  • Hirschsprung disease
  • biliary atresia
  • spina bifida
  • MMC
  • hypoplastic uterus
  • vaginal atresia
  • hypospadias

Cytogenetics

- supernumerary inv dup(22)(q11) chromosome, occasionally due to interstitial duplication of 22q11