Chromosomal Abnormalities

Name of Number of Classification of Affected Description

Abnormality autosomes and abnormality Chromosome
sex /number
chromosomes
Metafemale 47 Numerical Chromosome x Female are
syndrome abnormality taller than
Sexual normal.
aneuploidy Developmental,
psychological
and behavioral
problems
Klinefelter 47 Numerical Chromosome x Small testicles
syndrome abnormality and poor
Sexual muscular
aneuploidy growth
Wolf-hirschhorn 46 Structural Chromosome 4 Broad, flat
syndrome abnormality nasal bridge
Deletion and a high
forehead.
Delayed growth
and
development,
intellectual
disability, and
seizures
Cri-du-chat 46 Deletion Chromosome 5 Cat-like-cry,
high pitched
voice, small
head, and
flattened bridge
of the nose
Jacobsen 46 Structural Chromosome 11 small and low-
syndrome abnormality set ears,
Deletion hypertelorism
with droopy
eyelids,
epicanthal
folds, a broad
nasal bridge,
macrocephaly,
and
trigonocephaly
Pallister-Killian 47 Numerical Chromosome 12 Hypotonia in
syndrome abnormality infancy and
Isochromosome early
childhood,
intellectual
disability,
 distinctive
facial features,
sparse hair,
and areas of
unusual skin
coloring
Patau’s 47 Numerical Chromosome 13 Cleft lip, cleft
Syndrome abnormality palate, cerebral
autosomal defects,
aneuploidy anophthalmia,
simian creases,
polydactyly,
trigger thumbs,
and capillary
hemangiomata
Isodicentic 15 47 Numerical Chromosome Poor muscle
syndrome abnormality 15 tone,
autosomal developmental
aneuploidy delay, mild to
severe
intellectual
disability,
delayed or
absent speech,
behavioral
abnormalities,
and seizures
Edward 47 Numerical Chromosome 18 Miscarried,
syndrome abnormality stillborn or
Duplication born with
severe physical
abnormalities.
Cannot survive
long
Cat eye 46/47 Structural Chromosome 22 Abnormalities
syndrome abnormality of the eyes,
Partial ears, anal
Tetrasomy region, heart,
and/or kidney
Down syndrome 47 Numerical Chromosome With oblique
abnormality 21 eyes
Trisomy
Jacob’s 47 Numerical Chromosome Y Also called as
syndrome abnormality criminal
Sexual aneuploid syndrome
Turner 45 Structural Chromosome X Webbed neck
syndrome abnormality and short
Sexual stature
aneuploid
? 45 Numerical ? Cannot survive
 abnormality long
Alagille 46 Structural Chromosome Abnormalities
syndrome abnormality 20 of the liver,
Translocation heart, skeleton,
eye, and
kidneys and a
characteristic
facial
appearance