RT Book, Section
A1 Shaffer, Lisa G.
A1 Ledbetter, David H.
A1 Lupski, James R.
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181419272
T1 Molecular Cytogenetics of Contiguous Gene Syndromes: Mechanisms and Consequences of Gene Dosage Imbalance
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181419272
RD 2024/04/19
AB Contiguous  gene  syndromes  (CGS)  are  disorders  caused  by  chromosomal  abnormalities,  such  as  deletions  and  duplications,  which  result  in  an  alteration  of  normal  gene  dosage.  Clinically,  each  CGS  is  characterized  by  a  specific  and  complex  phenotype,  which  was  recognized  in  most  cases  as  a  genetic  syndrome  before  knowledge  of  their  cytogenetic  etiology.  The  responsible  chromosomal  segment  is  usually  small  on  a  cytogenetic  scale  (20  kb),  low-copy  region-specific  repeat  sequences.  The  underlying  genome  architecture  likely  facilitates  large  rearrangements  of  other  regions  of  the  genome.Molecular  technologies,  primarily  PCR  and  fluorescence  in  situ  hybridization  (FISH),  have  been  key  to  the  characterization  of  CGS  and  provide  powerful  and  sensitive  diagnostic  capabilities.  For  X-linked  CGS,  multiplex  PCR  analysis  of  nullisomic  males  and  FISH  analyses  of  carrier  females  are  efficient  strategies  for  deletion  detection.  FISH  is  the  method  of  choice  for  detection  of  deletions  and  translocations  in  autosomal  CGS.  Interphase  FISH  and  pulsed-field  gel  electrophoresis  have  been  used  to  diagnose  chromosomal  duplications.