partial monosomy chromosome 7

smacker5 at aol.com smacker5 at aol.com
Thu Nov 14 16:31:13 EST 1996


To whom it may concern;

I am a parent of a 15 month girl named Jessica. She was born with a
segment deletion of the long arm chromosome 7. The genotype is: 46,XX,del
(7)(q22.1q31.2). Since receiving the results we have been informed that
her particular situation is rare, and only 7 other children since 1976
have been reported with it. The reports of the seven children are extreme,
which gives me reason for great concern. My daughter displays low muscle
tone, and a delay in development. She has been described as, mild global
hypotonia involving both axial and appendicular muscles: mild hypotonia is
noted in the region of pelvic girdle.To date, her gross motor is about 2.5
months behind, and her fine motor and cognative skills are right on
target. The span for gross and fine motor was 6-7 months behind when
physical and occupational therapy began. There are no concerns about
regression in any of the devepmental parameters at this time Since birth,
her index fingers on both hands have been described as arthrogrypotic.
They have always been flexed or curled in toward her palms. She has been
using them more, but still displays an immature pincer grasp. Jessica has
had a MRI, which has ensured us of normal structure of her brain. The
various blood tests have also been normal except the chromosomes.

She recently has seen Dr. Hutcheon, chief section of genetics at St. Joe's
in Paterson NJ. He told us, when reading the reports, he did not feel very
optimistic about her condition. But, after Dr. Hutcheon met Jessica, he
was relieved, and feels very optimistic of her future. He concurred that
Jessica's phenotype is less severe than the seven children in the
scientific literature we have received. However, he did tell us we should
expect some sort of learning disability in the future, but obviously can
not tell to what degree. I was wondering if I could take my research
further to talk with a scientist who may be studying this so called
syndrome. I am not sure how to go about doing so. If you have any
suggestions I would be most appreciative. He also mentioned the fact that
the other part of her chromosome 7 is in tact, and all information is
there. Does this mean that her condition will not be as severe? 

What is involved with having my daughter studied. Is this something that
is possible, and should I consider it at all. I feel it is important for
Jessica to be studied, and entered into the report with the other seven
children. This would show there are degrees of symptoms and hope for the
next parent reading that report. I am still trying to track down a current
report on the seven children. Some must be around 17 or 18 and even 20 by
now. Have they gone to college, do they live "normal" lives etc. As you
can see I'm still looking for information, as well as, what else can I do
for my daughter. The doctors all say the best thing I could have done was
to get her involved in physical & occupational therapies very early. It
has helped her tremendously, but what can I do for her possible learning
disabilities. If you have any suggestions I am very willing to hear them,
as well as reaserch them on the internet. Is there a way to find out of an
ongoing study of this genotype? Thank-you so much for any information you
can provide.

Sincerely,
Lori Dring
E-mail: Smacker 5




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