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Maite Solé Wrote: ------------------------------------------------------- > Marion: > > Inheritance is AUTOSOMAL RECESSIVE, caused by > mutations in ESCO2. > > 1.- RECURRENCE RISK: > > 1a.- Patient's sib: 25% > 1b.- Patient's offpring: not increased (not > surviving to reproduction in severe cases) > > To understand the "25% risk" , go inside the index > web and make clik in "WHAT HAPPENS WHEN OUR > RECIPES COMBINE WITH OUR PARTNER'S > RECIPES".......page 3: > disorders....autosomal....recessive, option B. > > > 2.- PRENATAL DIAGNOSIS FOR PREGNANCIES AT RISK: > > 2a.- Ultrasonography, looking for: > > * Bilateral phocomelia or tetraphocomelia > of varying degree. > * Cleft lip and palate > * Intrauterine growth retardation > * Asociate anomalies: hydrocephalus, > congenital heart defects, renal anomalies. > > > 2b.- Cytogenetics, looking for: > > * Premature centromere separation in > chorionic villi and amniocytes in the fetus. > > To get more information go to the index web and > make clik on: PRENATAL DIAGNOSIS TECHNIQUES: > windows:....... "Chorion biopsy", > "Amniocentesis", "Ultrasound", and "Maternal > blood". > > > > 3.- MANAGEMENT: > > * Special education > * Cornea grafting > * Corrective surgery: cleft lip/palate; limb > defects > * Prosthetic devices. for underdeveloped or > missing limbs > > We also recomended you to take a look at: > QUESTIONS numbers: 1, 2, 3, 9, 21, 24 > > AND PLEASE, regardless of all the information you > get on the subject of your interest, do not forget > that it is only an information service, containing > data that must be interpreted by a specialist, so > please before you make any decision, HAVE A > CONSULTATION WITH A GENETICS DEPARTMENT, where > your individual case will be accurately assessed > and where all your questions will be answered. > > Best wishes. > Maite Solé
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