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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
CHROMOSOME 22 RING PATIENTS
This list of findings in Chromosome
22 Ring 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. For some of
the listings, I have tried to include links or definitions of some of the
more obscure names, to help those not familiar with the terminology
(including myself) understand their meanings. I was not able to find
explanations for everything, so please contact your own professionals if
you have questions. If you have any concerns, please discuss them with
your doctor or genetics counselor.
| severe
mental retardation |
no
development of speech |
| general
hypotonia |
unsteady
gait |
| congenital
right-sided hydronephrosis |
hydroureter |
| urinary
tract infections |
prominent
occiput |
| facial
dysmorphism |
rigid
metopic sutures |
| downward
slanting palpebral fissures |
esotropia |
| epicanthus |
large
low set ears |
| tented
upper lip |
small
umbilical hernia |
| bilateral
calcaneovalgus deformity |
puffy
feet |
| high
vaulted palate |
enamel
defects |
| undescended
testes |
testicular
tumor |
| neurofibromatosis |
large
flat ears, |
| prominent
nose |
incoordinated
movement |
| widely
spaced eyes |
epicathal
folds |
| drooping
eyelids |
underdeveloped
toenails |
| webbed
fingers and toes |
small
eyes |
| long eye
lashes |
cardiac
defects |
| bipolar
disorder |
hyperactivity |
| cleft
palate |
imperforate
anus |
| dysphagia |
meningiomas |
| thin
ribs |
radial
head hypoplasia |
| bilateral
ocular colobomas |
thoracolumbar
scoliosis |
| lack of
complete closure of one eye |
wide
spaced nipples |
| mild
cutaneous syndactyly of fingers and toes |
unlar
deviation of the hands |
| narrow
hands and feet |
tight
heel cords |
| contractures
of elbows |
hypertonia |
| gum
hyperplasia |
micrognathia |
| large
extremities |
high
forehead |
| upslanting
eyes |
Hypomelanosis
of ito |
| spina
bifida occulta with sacral dimple |
metachromatic
leucodystrophy |
| seizures |
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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
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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