DiGeorge syndrome
microdeletion
aniridia-Wilms' tumor syndrome
Edwards syndrome
Nijmegen breakage syndrome
microduplication
Turner syndrome
monosomy
Williams syndrome
Klinefelter's syndrome
Klinefelter syndrome
XXY-syndrome
Down's syndrome
Prader-Willi syndrome
mongolianism
mongolism
trisomy 21
Down syndrome
supersex
Turner's syndrome
XX male syndrome
cytogenomics
indel
XYY syndrome
univalent
dysploidy
embryofetopathy
embryopathy
autosome
birth defect
idiochromosome
congenital abnormality
congenital disorder
congenital anomaly
congenital defect
acentric chromosome
lyonization
subtelocentric
androgeny
Waardenburg syndrome
teratogenesis
androgenesis
quadriradial
X-linked recessive inheritance
heterochromosome
copy
cri du chat syndrome
variation
heterosome
isodisomy
nondisjunction
bivalent
polysomy
idiochromatin
Poland syndrome
neochromosome
telocentric
organic defect
dwarfism
nanism
Pallister-Hall syndrome
missegregation
nanochromosome
ectromelia
genopathy
acentric
gynogenesis
cartilage-hair hypoplasia