Medical Books
pediatrics
Also known as 18th Trisomy. There exists an extra copy of chromosome 18. The diagnosis may be made prenatally in advanced centres and postnatally in others. The baby born with Edwards syndrome may have the following defects.
Cardiac Defects: VSD ASDF PDA
GIT defects: omphalocele, esophageal atresia
CNS anomalies: mental retardation, developmental delays, growth deficiency, feeding difficulties, breathing difficulties
External Markers:
small head (microcephaly)
prominent back portion of the head (occiput);
low-set, malformed ears;
abnormally small jaw (micrognathia);
cleft lip/cleft palate; upturned nose;
narrow eyelid folds (palpebral fissures);
widely spaced eyes (ocular hypertelorism);
drooping of the upper eyelids (ptosis);
a short breast bone;
clenched hands;
choroid plexus cysts;
underdeveloped thumbs and or nails absent radius, webbing of the second and third toes;
clubfoot or Rocker bottom feet;
and
in males, undescended testicles.
Edward’s Syndrome Images:
Edward’s Syndrome Powerpoint Presentations:
Trisomy 18 or Edward’s Syndrome
Mistakes in Meiosis
The National Genetics Education
Chromosome Alterations
Chromosomal abnormalities
Basic Genetics & Background on Genetic Testing
Karyotype Analysis