RT Book, Section A1 Hay, Jr, William W. A1 Levin, Myron J. A1 Deterding, Robin R. A1 Abzug, Mark J. SR Print(0) ID 1145454844 T1 Contiguous Gene Disorders T2 Quick Medical Diagnosis & Treatment Pediatrics YR 2017 FD 2017 PB McGraw-Hill Education PP New York, NY SN 9781264257614 LK accesspediatrics.mhmedical.com/content.aspx?aid=1145454844 RD 2024/03/29 AB Williams syndromeDeletes the gene for elastin and other neighboring genes at 7q11.23Duplication of chromosome 7q11.23 results in a syndrome that includes speech delay and features of autistic spectrum disordersSmith-Magenis syndromeAssociated with microdeletion of 17p11Duplication of 17p11 produces Potocki-Lupski syndromeVelocardiofacial syndrome (Deletion 22q11 syndrome)Duplication of the 22q11 region produces a mild and highly variable phenotype that ranges from developmental delays and learning disabilities to functionally normalAlso known as DiGeorge syndromeOriginally described in newborns with cyanotic congenital heart disease, usually involvingGreat vessel abnormalitiesThymic hypoplasia leading to immunodeficiencyHypocalcemia due to absent parathyroid glands