Hello! We with suprugoj relatives. The grandmother spouses and my grandfather the brother and...

[Alizhon]

Hello! We with suprugoj relatives. The grandmother spouses both my grandfather the brother and the sister. The senior daughter was born normally. Other three our children have died in 6 7 months. The second both third boys and the fourth girl. Doctors have diagnosed Verdniga Hoffmann's Illness or Disease . Whether there is at us a chance to have the healthy child? And how it can be reflected on my daughter? Whether and more can write the address of the genetic center of Republic Uzbekistan and an e-mail address?

[Andrey]

Dear Alizhon. In your situation relationship distant - three times removed. The probability genetic narushenej at the child at which both cousin relatives - is a little parent above than if they not relatives. At three times removed relationship probability same, how and when they not in relationship, therefore not in it or this business. Sometimes the gene is fixed in populations and iz-that people vnturi zhenjatsja the friend on others and inflow " the fresh blood " is not present populations a situation can arise enough not good. Most likely you and your wife are carriers or bearers of mutant gene SMN on a chromosome 5 (the part of a gene is absent - t. To. Named deletions) and then chances to have the healthy child only 25 %. If only one of you the carrier or bearer - chances of 50 %. Now exist enough pre-natalnye diagnostic methods, whether which allow to establish or install there is at a fetus spino-muskuljarnaja an atrophy (those. Werding Hoffman illness or disease). For this purpose use amniopunktsiju and spend the analysis of DNA on culture amniotsitov - by means of PTSR or PDRF motrjat deletions 7 go and 5 go an exon in gene SMN (Survival Motor Neuron Gene). I with the big confidence can tell or say that in republic Uzbekistan will make such analysis unfortunately very difficultly. I know, that such analysis delujut in Croatia, therefore there can be you can write to them the letter and look or see what to turn out - here adress: Professor Asim Kurjak,
Department of Obstetrics and Gynecology, Zagreb University School of Medicine, Sveti Duh Hospital, Zagreb, Croatia. (http: // www. ob-ultrasound. net/kurjak. html)

[Andrey]

Excuse - at pre-natalnoj to diagnostics deletions not 7 and 5, and 7 and 8 exons in gene SMN look. Whether At least this diagnostics will allow to establish or install bydet at a fetus this disease or not

[Andrey]

Alizhon,
And is better try to write in the beginning the letter here here and to you should give very detailed consultation through illness Verdniga-Hoffman

Dr Feodora Stipoljev
Cytogenetic Laboratory
Department of Obstetrics and Gynecology
Sveti Duh General Hospital
Sveti Duh 64
10000 Zagreb, Croatia
ana. stavljenic-rukavina@zg. tel. hr