[ Post a Response | Trisomy 22 and Misc. 22 Interest Board ]
Posted by Dori Overman on 3/1/2005, 1:58 pm, in reply to "Re: 10;22 translocation" --Previous Message--
65.68.206.249
Thanks! That's a ton of information! I really appreciate it!
Dori Overman
: I'm not sure about what the karyotype
: notation means, but I think the
: der(22) means 10p+ and 22q-. The thing
: is, a translocation is a swapping of
: the chromosome information between two
: chromosomes. Some people have balanced
: translocation, which means they have
: all the gentic information in a
: different order than most people.
: Others, like your son, have unbalanced
: translocation. I think der(22) means
: that he got a 22 chromosome with some
: 10p information instead of 22q
: information, but not the matching 10
: chromosome with 22q information
: instead of 10p. So, if I'm right, he
: has partial trisomy 10p and partial
: monosomy 22q. In fact, he has 22q13
: deletion syndrome, as well as 10p
: duplication. There's information about
: 22q13 deletion at this site. I've
: researched a bit about 10p+, so here's
: some sources of information:
: http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index=156
: Jablonski's Syndromes Database has
: lists of reported characteristics
: associated with the syndrome, but it
: doesn't tell much about incidence. Not
: everyone with a particular syndrome
: has all the traits in the list.
: www.chromodisorder.org is a support
: group for rare chromosome disorders.
: On www.orpha.net they have some
: information including a PDF about
: 10p+. It's in French, so in case you
: don't know french I'll tell you a
: summary of the information it has: It
: describes the typical appearance. My
: french is a bit rusty, but 70% have
: oddly shaped ears, 50% have frontal
: bossing(prominent forehead), 60% have
: "a palatine slit" which I
: think means cleft palate, 57% a
: prominant nasal base, 42%
: microcephaly(small head), 37% thin
: upper lip, 37%
: micro/retrognathia(small/receding
: chin), 33% downslanting eyes, 30%
: hypertelorism(far apart eyes), 27%
: dolichocephaly(long narrow skull), 22%
: large fontanelles.
: 50% have club feet. 28% have simian
: crease or other dermatoglyphic
: anomalies, 27% have
: clinodactyly(crooked pinkie finger)
: and 10% have skeletal anomalies.
: Genital anomalies in 33%, and heart
: defects in 28%. 18% have kidney
: anomalies, mostly cystic
: dysplasia(sorry, I don't really know
: what that is). 20% have ocular
: anomalies, mostly
: coloboma(keyhole-shaped pupil) or
: micropthalmia(small eyes). Both of
: those cause vision impairment.
: Apparently cleft palate and club feet
: are considered typical of this
: syndrome. In one study, 27/43 had
: growth retardation, 27/43 were
: severely mentally retarded, 23/43 were
: hypotonic(floppy), 12/43 died young,
: 10/43 were anemic and 9/43 had
: seizures.
: Hope that helped.
:
: PS: if you e-mail me, put nkalamo in
: the subject line or your message will
: be automatically deleted.
:
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