Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional trisomies > trisomy 22

trisomy 22

Monday 9 May 2005

Trisomy 22 is frequently seen in first trimester miscarriages but is extremely rare in life-borns. Trisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality.

Types

- non-mosaic trisomy 22
- unbalanced 11;22 translocations
- mosaic trisomy 22

Synopsis

- intra-uterine growth retardation (IUGR)

  • hypotrophism
  • bilateral pterygium colli

- craniofacial anomalies

- facial dysmorphism

  • thin upper lip
  • cranial / facial assymetry
  • frontal bossing
  • depressed superciliary region
  • occiputal anomaly
  • sparse hair
  • hypertelorism
  • downslanting eyes
  • epicanthal folds
  • broad flat nasal bridge and broad nose, flat nose
  • ocular hypertelorism
  • long philtrum
  • webbed neck
  • micrognathia
  • hypertelorism
  • frontal bossing
  • bulbous nose
  • antimongoloid slant of the palpebral fissures
  • strabismus
  • long philtrum
  • large rotated protruding low-set auricles
  • Goldenhar syndrome (facioauriculo-vertebral dysplasia)
  • low set ears
  • malformed ears
  • ear pits / ear tags
  • microtia
  • variable cleft palate
  • webbed neck

- pectus excavatum
- abnormal dermatoglyphics
- absent gall bladder

- cardiovascular malformations

  • ventricular septal defect
  • Fallot pentalogy
  • atresia of pulmonary valve
  • dextroposition of the aorta
  • hypertrophy of the right atrum and ventricle
  • ventricular Septal defect
  • great interatrial septal defect
  • malformations of great vessels
  • persistent left cardinal vein
  • absent right umbilical artery
  • nuchal skinfold thickness increase
  • thyroid isthmus agenesis
  • single umbilical artery

- cerebrospinal anomalies

  • absence of corpus callosum
  • limbal and epibulbar complex choristoma
  • microcephaly

- diaphragmatic hernia

- limb anomalies

  • hypoplastic nails
  • clinodactyly
  • radial anomaly
  • hypoplastic digits
  • simian crease
  • bracydactyly
  • small hands
  • hallux valgus
  • clubbed feet
  • limited range of motion
  • rocker bottom feet

- anomalous external genitalia

  • hypotonia hypospadias
  • hydrocephaly small phallus

- anorectal malformations
- renal malformations

- anomalous internal genetalia

- left hemifacial microsomia
- narrow chest
- intrauterine dystrophy
- hypoplastic nipples

- hypoplastic scrotum
- strabismus
- undescended testes
- antimongoloid palpebral fissures
- anal stenosis / atresia
- short wide neck
- distal limb hypoplasia
- no fingertip pattern
- persistant left superior vena cava
- dry, thin wrinkled skin
- genital malformation or hypoplasia
- small dysplasic kidneys
- bilateral cleft lip and palate
- hypoplastic lungs, pancreas and adrenals
- low set ears
- bilateral absence of olfactory bulbs and tracts
- excess nuchal skin
- incomplete descent of the cecum
- proximally placed or fingerlike thumbs
- long fingers
- Pierre Robin Syndrome
- tonic-clonic seizures
- contracted pelvis
- imperforate anus with anovulvar fistula
- hypoplastic distal digits
- thumb anomalies

- intersex (sexual ambiguity)

  • external male organs but rudimentary female internal organs (8092876)

- uveal colobomas

- cutis laxa on arms and hands
- unilateral transverse palmar crease
- elbow joints contracted in felxion

- hypoplasia of the bilobate lungs
- multiple hypoplasia of the diaphragm

- lien pendulans

- kyphosis

- sacral dimple

- digestive anomalies

  • malrotation of gut
  • anorectal anomalies

- renal anomalies

- lymphedema

Mosaic trisomy 22

- intrauterine growth retardation
- mental retardation
- failure to thrive, short stature
- craniofacial asymmetry
- ocular anomalies (15255116)

  • ptosis
  • double elevator palsy
  • high myopia
  • choroidal coloboma involving the macula

- terminal transverse limb reduction defect

  • absent hand

- congenital cardiac defect
- facial dysmorphism
- skin pigmentary anomalies
- intersex

Trisomy 22q13-qter (Partial duplication 22, partial trisomy 22)

- pre- and postnatal growth retardation
- hypertelorism
- bilateral cleft lip and palate
- peripheral pulmonary stenosis

References

- Bacino CA, Schreck R, Fischel-Ghodsian N, Pepkowitz S, Prezant TR, Graham JM Jr. Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature. Am J Med Genet. 1995 May 8;56(4):359-65. PMID: 7604844

Portfolio

  • Bilateral renal hypoplasia in trisomy 22 (19 weeks)
  • Bilateral renal hypoplasia in trisomy 22 (19 weeks)
  • Facial dysmorphism in trisomy 22 (19 weeks)
  • Bilateral renal hypoplasia in trisomy 22 (19 weeks)
  • Facial dysmorphism in trisomy 22 (19 weeks)
  • Facial dysmorphism in trisomy 22 (19 weeks)
  • XY intersex in trisomy 22 (19 weeks)