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Chromosome 22 Central Inc.
is a registered Canadian Non-Profit Organization
and Registered Charity BN# 86009 3665 RR0001, and a Registered US
Corporation with Non-Profit Status
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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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DUES, or for Canadian or International Donations ONLY.
USA members for DONATIONS
Please forward a cheque or money order to our US HEAD OFFICE so that you
can obtain a tax receipt.
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
US Head Office - for US donations: Chromosome 22 Central, c/o Murney
Rinholm, 7108 Partinwood Drive, Fuquay-Varina, North Carolina, 27526
USA, tel (919) 567-8167, EMAIL: bgr@nc.rr.com
Latin America / Spanish inquiries -
Laura Munoz, Robinson Crusoe 1209, Las
Condes - Santiago, Chile tel: 02-3251262 EMAIL: lauramuno@hotmail.com
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