My granddaughter has been diagnosed with deletion of long arm of chromosome one, 1q 43 & 44. I would appreciate any information on expected growth & development as a result. Thank you.

I have an 8 year old son Tom who is blind and has spastic quadriplegia arising from a chromosome 1 deletion 1q21.21 - 23 on one arm only of his chromosome.

I know great strides have been made in mapping the genes on Chromosome 1, and I would like to know more about why the effect of missing such a small piece on one arm has been so devastating.

Can anyone point me in the right direction ? Thanks.

I am doing research on chromosomal disorders. This research is for a term paper. Any information on the 1st chromosome would be greatly appreciated.

I am trying to find any information on a "tail on a Y chromosome" Please E-mail me any information on this condition and/or what it is called. Sincerely

Hi,
Could you please send me by e.mail the complete GENE sequence
(exons & introns) of the human oct1 gene.
Thank you for any help you can give.,

I have a beautiful 16 month old daughter who has been diagnosed with a deletion of 1q 24 to 31. She was a normal birth weight and her development was on the growth chart for her first 5 months. Initially she was diagnosed with failure to thrive. Subsequent testing revealed the chromosome deletion mentioned above. At 16 months she weighs 15 lbs and is moving further off the growth chart. She is not now on a feeding tube, although probably will be soon. She is clearly behind in speech and motor skills, although she seems to be progressing in both areas (especially fine and gross motor skills). She seems slow cognitively, but may not be retarded. She does not have a cleft lip or palat. She is alert and very social with an active sense of humor. Who knows of similar cases? Any ideas for treatment and/or developmental therapy? Any information would be greatly appreciated.

Seeking information on Partial Monosomy of Chromosome 1.
My son has a sublte deletion of material on the distal tip
of the short arm of the #1 Chromosome. Any information
would be appreciated. Thank you.

My daughter was found to have a partial deletion of chromosome 1.It is at the very tip of the chromosome.At this time they are unable to tell us what will happen .If anyone has any information please contact me.i aslo have notice that there is no support group for this disorder.If anyone is interested please let me know..I am working with her doctor to start one up.

Thank You

I'm trying to research the GLC3B (Glaucoma 3, Primary Infantile B) gene on chromosome 1. Any help regarding the molecular biology of the gene and/or the gene product would be a great help! Thanks.

I am doing a paper on Chromosome No. 1. I am specilizing on Waardenburg Syndrome, and Maple Syrup Urine Disease. Any information would be very helpful. THANKS!!

What is chromosome 1 and what does it control. And if
there is a chromosomal deletion, does that count for a chromosomal
mutation?

please reply. Thx

Dear collegue,

I have in my department a patient bearing a translocation involving the chromosome 1.
The breakpoint is located in p11. This patient and his wife are waiting for an IVF and we
would realise a cytogenetic study on spermatozoa before they enter in this assisted
medical procreation.

Would you indicate me the name of a person which
possesses a probe in the region 1p21-1p21.3.

Thank you for your assistance

Sincerely yours

Marie Guichaoua

Pr.Marie Guichaoua
laboratoire de Biologie de la Reproduction
Hôpital, de la Conception
147 Bd Baille, Marseille
France
E-mail : mguichao@ap-hm.fr
Fax : 04 91 38 38 97

Please, can I have some information regarding the effects
that the above disorder could cause my baby.
My wife is 16 weeks pregnant.

Many thanks for your help.

My 17 month old son was just tested and found to have a piece of chromosome 1 attached to 14 and 14 to 1. I have been unable to find out what this means, or causes. Can anyone help me? My son is behind about 8 months in his gross motor skills. Just barely crawling and not even close to walking. I have searched high and low and have not been able to find any information. thanks for any help.

My lab is studying the biology of a new class of G-protein coupled receptors. One of them was mapped by radiation hybrids at Stanford to 1p31. Immunohistological localization studies show the protein in cardiocyte intercalated disks, in cartilage at type I collagen zones, in CNS cortical pyramidal neurons and cerebellar Purkinje cells. Is anyone aware of genetic anomalies (LOH, duplications, deletions) of 1p31 that might have pathologies in common with the tissue distribution of this receptor protein?

I apologise if this is not relevant to your organisation. However, we
would be very grateful if you would be able to assist and
advise on any information you may have gathered in connection
with the following:-

I am 37 years of age and I am 18 weeks pregnant. Due to my
age it was recommended that I do an Amniocentesis test, the
results of which I obtained today, as follows:-

1. Balance translocation between chromosomes 1 & 9
2. Karyotype 46,XY,t(1:9)(p10-10q)

My gynecologist has advised that this is abnormal, however, to
what extend, neither she, her colleagues, or the university have
knowledge of or encountered before.

Both my husband and I were asked to submit blood for a Peripheral
Blood Karyotype (GH) test today. Dr Yeoh feels that there may be
some slight abnormality in either myself or my husband (we are both
perfectly healthy) which may have been passed on to our baby
and in that case may be of no consequence. However, if nothing
shows in either of us, they have no idea as to how serious the
problem may be. Incidentally our baby is male.

Both my husband and I reside in Singapore and medical attention
here is excellent, however, we would be very grateful if you kindly
provide us with any information you may have


Thank you very much

Madeline & Brian email mbcoll@mbox3.singnet.com.sg

Hi.I'm writting in order to educate as many people as I can about the 1p36 deletion.
My Daughter was found to have this disorder and many people do not know about it
including doctors. I'm starting a support group to help people in education and friendship.
Parents need to know they are not alone. Please contact me if you need any info about this disorder.
I can put you in contact with the research group that has help my daughter.
E-Mail me at CareBare94@aol.com and I will do my best to help you.
Thank you.

our daugter is 6 years old and she is diagnosed to have carotype 46xx1p+1+1.are ther other
children with the same diagnose?
She is behind in her gross motor skills.she is like a3-4
year old.
If your child has anytig like this pleace contact us.
we live in norvay!

Allan JR. has been diagnosed with Trisomy 1 - 46xy, dir, dup(1)(q32.1 q43, the distal part of the long arm of chromosome #1. If you have any information on this sequense please e-mail me. We are having a hard time finding similar cases. We would appreciate any and all information. Support groups, research, people living with this sequense,age expectancy,what to expect development wise. realy any info at all. Thank you so very much. Jody

I have an eight year old son whose karyotype is 46,xy,-1,+der(1)
there is an abnormal band on the short arm of chromosome1.
While I was pregnant I had preeclampsia,my son was a month
early it was a normal delivery. His birth weight was 5pds.
10oz.He was a SIDS babyand had a large head size. At 2mths.
he was hospitalized for diarrehea and dehydration. At 5mths.
he was hospitalized and diagonsed as Failure to Thrive.He
had severe breathing problems.He had testing for Fragile X
which was negative. He's also been tested for Cystic Fibrosis
CT scan of neck and MRI of head were reportedly normal.
He has a thin vermilion border with a downturned mouth.
Ears and nose are normal. He had speech and physical therapy
until age4. After starting school he was tested do to
learning difficulties and has an extremely low IQ but is
not retarded.Blood tests were done on his father and I but
found it was not inheirted but happened spontaneously.
Any information on this would be greatly appreciated.

Hallo,
Is there anyone having same or similar karyotype: 46XX inv(1)(q31,2q32.3)? Please, let me know. I«m 32, considered to be a healthy person with none previously noticed problems whatsoever. After 2 m/c«s though I was karyotyped with the above mentioned inversion.
I know there is higher probability of further m/c«s but is there a serious danger of transforming this inverted part of a chromosome on a baby ? What does this sequence q31 - 2q32.3 represent anyway ? Would I have looked like differently, or had different characteristics, or did I earn or lost some preconditions for certain diseases and which ones ? Why is there a No.2 in front of a q32.3 (it seems to me rather unusual) ?
Is it feasible at all trying to eliminate this inversion via preimplantation testing + ICSI ?
Sorry for being so chaotic but I«m really curious.
PLEASE any information and experience is very much appreciated.
Wish you all only good news and pleasant days,
Zoe.