BIOLOGY ASSIGNMENT #06

03/11/2020
Chromosomal Deletion Syndromes abnormally shaped, and frequently have narrow external auditory canals
and preauricular tags. Syndactyly, hypertelorism, and cardiac anomalies
Chromosomal deletion syndromes result from loss of parts of occur often. Mental and physical development is markedly retarded. Many
chromosomes. They may cause severe congenital anomalies and affected children survive into adulthood but have significant disability.
significant intellectual and physical disability. Chromosomal deletion
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome,
syndromes are rarely suspected prenatally but may be incidentally
is a chromosomal condition that results when a piece of chromosome 5 is
discovered at that time if karyotyping is done for other reasons. Postnatal
missing. Infants with this condition often have a high-pitched cry that
diagnosis is suspected by clinical appearance and is confirmed by
sounds like that of a cat.
karyotyping, if the deletion is relatively large, or by other cytogenetic
techniques such as fluorescent in situ hybridization or microarray Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome,
analysis. is a chromosomal condition that results when a piece of chromosome
5 is missing.
Chromosomal deletion syndromes typically involve larger deletions, that
are typically visible on karyotyping. Syndromes involving smaller  Infants with this condition often have a high-
deletions (and additions) that affect one or more contiguous genes on a pitched cry that sounds like that of a cat.
chromosome and are not visible on karyotyping are
considered microdeletion and duplication syndromes . The disorder is characterized by intellectual
disability and delayed development, small head size
(microcephaly), low birth weight, and weak muscle
5p- syndrome (5p minus syndrome or cri-du-chat syndrome) tone (hypotonia)
in infancy. 
Deletion of the end of the short arm of chromosome 5 (5p minus, usually
paternal) is characterized by a high-pitched, mewing cry, closely resembling
the cry of a kitten, which is typically heard in the immediate neonatal
period, lasts several weeks, and then disappears. However, not all affected
neonates have this
unusual cry. Affected
neonates are
hypotonic and have
low birth weight,
microcephaly, a
round face with wide-
set eyes, downward
slanting of the
palpebral fissures
(with or without Affected individuals also have distinctive facial features, including widely
epicanthal folds), set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.
strabismus, and a Some children with cri-du-chat syndrome are born with a heart defect.
broad-based nose.
The ears are low-set,
Frequency. Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to
50,000 newborns. This condition is found in people of all ethnic
backgrounds.
Children who inherit an unbalanced translocation can have a chromosomal
rearrangement with extra or missing genetic material. Individuals with cri-
du-chat syndrome who inherit an unbalanced translocation are missing
genetic material from the short arm of chromosome 5, which results in the
intellectual disability and health problems characteristic of this disorder.

Cause. Cri-du-
chat
syndrome is Other name:
caused by
a deletion of the  5p deletion syndrome
end of the short  5p- syndrome
(p) arm
of chromosome  cat cry syndrome
5. This  chromosome 5p- syndrome
chromosomal
change is  monosomy 5p
written as 5p-.
The size of the deletion varies among affected individuals; studies suggest
that larger deletions tend to result in more severe intellectual disability and
developmental delay than smaller deletions.
The signs and symptoms of cri-du-chat syndrome are probably related to the
loss of multiple genes on the short arm of chromosome 5. Researchers
believe that the loss of a specific gene, CTNND2, is associated with severe
intellectual disability in some people with this condition. They are working
to determine how the loss of other genes in this region contributes to the
characteristic features of cri-du-chat syndrome.

Inheritance Pattern. Most cases of cri-du-chat syndrome are not

inherited. The deletion occurs most often as a random event during the
formation of reproductive cells (eggs or sperm) or in early fetal
development. Affected people typically have no history of the disorder in
their family.
About 10 percent of people with cri-du-chat syndrome inherit the
chromosome abnormality from an unaffected parent. In these cases, the
parent carries a chromosomal rearrangement called
a balanced translocation, in which no genetic material is gained or lost.
Balanced translocations usually do not cause any health problems; however,
they can become unbalanced as they are passed to the next generation.