TY  - CHAP
M1  - Book, Section
TI  - Contiguous Gene Disorders
A1  - Hay, Jr, William W.
A1  - Levin, Myron J.
A1  - Deterding, Robin R.
A1  - Abzug, Mark J.
Y1  - 2017
N1  - 
T2  - Quick Medical Diagnosis & Treatment Pediatrics
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  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1145454844
ER  -