{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T12:51:18Z","timestamp":1725627078126},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,3,30]],"date-time":"2004-03-30T00:00:00Z","timestamp":1080604800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2004,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sanjad\u2013Sakati syndrome (SSS) is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and mental retardation. In Saudi Arabia, the disease is caused by a deletion of 12 bp (155\u2010166nt) in the tubulin\u2010specific chaperone E gene. In a family with two affected siblings with SSS, preimplantation genetic diagnosis (PGD) was performed. Fluorescent PCR (F\u2010PCR) was utilized to check the heterozygosity and the homozygosity status of the parents and the affected children, respectively. F\u2010PCR was then optimized for single\u2010cell analysis by using peripheral blood lymphocytes. The patient underwent a cycle with intra\u2010cytoplasmic sperm injection. A total of 11 embryos were obtained and biopsied. There were five heterozygous, three homozygous affected and three normal embryos. One heterozygous and one normal embryo were transferred because of their very good quality (morula). A singleton pregnancy was obtained, and amniosynthesis confirmed the presence of the heterozygous fetus. These results show for the first time, the feasibility of PGD for SSS. 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