CHROMOSOME 22 CENTRAL 
SUPPORT FOR
ALL CHROMOSOME 22 RELATED DISORDERS 

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CLINICAL FINDINGS IN MOSAIC TRISOMY 22 

This list of findings in Mosaic trisomy 22 patients was compiled by going through several journal articles. The list is not intended to be for diagnosis, nor does it mean that any of the findings on the list will be present in all children. Findings may have only been found in one case, and are not listed in any order of most common first, etc. Nor are they a complete list of every case. Please contact your own professionals if you have questions. If you have any concerns, please discuss them with your doctor or genetics counsellor. 


unilateral radial aplasia vesicoureteral reflux
hypomelanisis of Ito (streaked pigmentation) prominent forehead
hemiatrophy midface hypoplasia
failure to thrive flat nasal bridge /short nasal length
mental retardation small nose
intrauterine growth retardation synophris
neonatal respiratory distress preauricular pits
apnea faint palmar flexion creases
anemia elbow dimples
sepsis hypotonia
mongolian spots over spine and buttocks low set malformed ears
microcephaly ear pits and tags
epicanthal folds webbed or short neck
micrognathia heart defects - VSD, ASD, PDA,
pulmonary hypertension
hypoplastic nails long philtrum / protruding upper lip
low posterior hairline downturned mouth corners
notched upper central incisors cleft palate
dental anomalies hearing loss
clinodactyly / syndactyly broad hands and feet
Signs of Ulrich-Turner Stigmata includes
ptosis, webbed neck, ovarian failure
camptodactyly
high forehead tapered fingers
brachycephaly radial anomaly
cranial/facial assymetry hallus valgus
Goldenhar Sequence clubbed foot
hypertelorism nephrosis
downslanting eyes / upslanting eyes renal anomaly
strabismus small scrotal sacs
assymetric irides anal atresia
ptosis (drooping eyelids) intestinal malrotation
epibulbar dermoids widespaced nipples
abscent pupilliary reaction to light nevi - multiple moles/birthmarks
scalloped iris malformed cervical vertebrae
persistant pupillary membrane dysphagia
corneal-limbal dermoids chronic pyelenephritis
facial edema cleft tongue w/posterior displacement
undescended testes absence of corpus callosum
hypoplastic labia majora  

 


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HEAD OFFICE - for ALL inquiries: Chromosome 22 Central, c/o Stephanie St-Pierre, 237 Kent Avenue, Timmins, Ontario, Canada P4N 3C2 tel/fax: (705) 268-3099, EMAIL:  steph.stpierre@gmail.com

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