NAME: THEA BRIGETTE VERGARA SECTION: 11-STEM B

DATE PERFORMED:10/23/2019 DATE SUBMITTED: 10/23/2019

CHROMOSOMAL DISORDERS
(HUMANS)

1.DOWN SYNDROME OR TRISOMY 21

DESCRIPTION: Down syndrome (DS or DNS), also known as trisomy 21, is a

genetic disorder caused by the presence of all or part of a third copy of chromosome 21.

CHARACTERISTICS:
-It is usually associated with physical growth delays, mild to moderate intellectual disability, and
characteristic facial features
-short stature,round head,flat face,slanting eyes,stubby fingers, wide gap between the first and
second toes, short neck, short arms, and short legs

2.EDWARD’S SYNDROME OR TRISOMY 18

DESCRIPTION: It is a genetic disorder caused by a third copy of all or part of chromosome 18.

CHARACTERISTICS:
-Babies are often born small and have heart defects
-Small head, small jaw, clenched fists with overlapping fingers,severe intellectual disability

3.PATAU SYNDROME
DESCRIPTION:It is a chromosomal condition associated with severe intellectual disability and
physical abnormalities in many parts of the body.It occurs in the part of chromosome 13.

CHARACTERISTICS:
-Individuals with Trisomy 13 often have heart defects, brain or spinal cord abnormalities and such.
-Very small or undeveloped eyes, extra fingers or toes, an opening in the roof of the mouth, and
weak muscle tone.

4.CRI DU CHAT SYNDROME

DESCRIPTION: is a genetic condition present from birth that is caused by the deletion of genetic
material on the small arm (the p arm) of chromosome 5.

CHARACTERISTICS:
-Infants with this condition often have a high-pitched cry that sounds like that of a cat.

5.WOLF-HIRSCHHORN SYNDROME

DESCRIPTION:It is a disorder caused by irregularities on the short arm of chromosome 4 (4p).

CHARACTERISTICS:
-It is characterized by intellectual disabilities and the Greek warrior helmet appearance of the nose
and forehead, as well as multiple other defects (skeletal, cardiovascular, and urogenital).

6.TURNER SYNDROME
DESCRIPTION:It is a chromosomal condition that affects development in females.

CHARACTERISTICS:
-Short, broad chest, webbed neck,and puffiness or swelling of hands and feet.

7.KLINEFELTER SYNDROME

DESCRIPTION:It is a chromosomal abnormality affecting the physical and cognitive development

of males which have underdeveloped prostate gland and testes, thus , there is shortage of
testosterone.

CHARACTERISTICS:
-Delayed puberty,lack of facial and body hair, breast enlargement, and usually small penis
-Big hands and feet, and unusually long arms and legs
-May have delayed speech and language development, and learning disabilities

 8.47, XYY males

DESCRIPTIONS: Individuals are somewhat taller than average and often have below normal
intelligence.

CHARACTERISTICS:
-

 9.Trisomy X: 47, XXX

DESCRIPTION:Females. 1:1000 live births - healthy and fertile - usually cannot be distinguished
from normal female except by karyotype.

10.FRAGILE X

DESCRIPTION:the most common form of mental retardation. The X chromosome of some people
is unusually fragile at one tip - seen "hanging by a thread" under a microscope. Most people have
29 "repeats" at this end of their X-chromosome, those with Fragile X have over 700 repeats due to
duplications.

11.JACOBSEN SYNDROME

DESCRIPTION:It is a condition caused by a loss of genetic material from chromosome 11.

Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome
11, Jacobsen syndrome is also known as 11q terminal deletion disorder.Most affected individuals
have delayed development, including the development of speech and motor skills . Most also have
cognitive impairment and learning difficulties. Behavioral problems have been reported, including
compulsive behavior (such as shredding paper), a short attention span, and easy distractibility.
Many people with Jacobsen syndrome have been diagnosed with attention-deficit/hyperactivity
disorder (ADHD). Jacobsen syndrome is also associated with an increased likelihood of autism
spectrum disorders, which are characterized by impaired communication and socialization skills.
Jacobsen syndrome is also characterized by distinctive facial features. These include small and
low-set ears, widely set eyes with droopy eyelids , skin folds covering the inner corner of the
eyes , a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small
lower jaw.

12.Angelman syndrome

DESCRIPTION: is a genetic disorder that mainly affects the nervous system.

Symptoms include a small head and a specific facial appearance, severe intellectual
disability, developmental disability, speaking problems, balance and movement problems,
seizures, and sleep problems.Angelman syndrome is typically due to a new mutation rather than
one inherited from a person's parents. Angelman syndrome is due to a lack of function of part
of chromosome 15 inherited from a person's mother. Most of the time, it is due to a deletion or
mutation of the UBE3A gene on that chromosome.

13.DiGeorge Syndrome

DESCRIPTION: is a syndrome caused by the deletion of a small segment of chromosome

22.While the symptoms can vary, they often include congenital heart problems, specific facial
features, frequent infections, developmental delay, learning problems and cleft palate

14.PRADER WILLI SYNDROME

DESCRIPTION:is a genetic disorder due to loss of function of specific genes. In newborns,
symptoms include weak muscles, poor feeding, and slow development.About 74% of cases occur
when part of the father's chromosome 15 is deleted In another 25% of cases, the person has two
copies of chromosome 15 from their mother and none from their father.

15.1p36 deletion syndrome

DESCRIPTION: is a congenital genetic disorder characterized by moderate to severe intellectual

disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and
vision impairment, and distinct facial features. The symptoms may vary, depending on the exact
location of the chromosomal deletion.

The condition is caused by a genetic deletion (loss of a segment of DNA) on the outermost band
on the short arm (p) of chromosome 1. It is one of the most common deletion syndromes. It is
estimated that the syndrome occurs in one in every 5,000 to 10,000 births.
GENETIC DISORDERS ( FELINE )

Polycystic Kidney Disease (PKD) is an autosomal dominant disorder in Persian and Himalayan
cats. Many of these cats develop kidney failure, while some only develop isolated cysts that do not
impair normal kidney function. There is now a direct cheek swab genetic test available to identify
kittens and cats with this defective gene .

Hypertrophic Cardiomyopathy is a dominantly inherited disorder progressing to heart failure in

the Maine Coon and Ragdoll breeds. Different mutations in the same causative gene for
cardiomyopathy have been identified in both breeds. In the Maine Coon, the gene frequency is
estimated to be over 30%, with both homozygous and heterozygous affected cats. The Maine
Coon breed also has a high incidence of hip dysplasia. A rarely reported abnormality in the breed
is an autosomal recessive Spinal Muscle Atrophy. Affected cats show a progressive weakness,
ataxia, and muscular atrophy.

Lethal Craniofacial Defect is a fatal autosomal recessive disorder in the Bernese breed.
Research at the University of California Davis suggests that the defective gene will be linked to the
wide "contemporary" facial structure that has been selected for in the breed.
 Renal Amyloidosis occurs as a hereditary disorder in the Abyssinian breed. Affected cats show
variable severity of proteinuria and progressive kidney failure. The mode of inheritance has not
been determined. An autosomal recessive Pyruvate Kinase Deficiency has been identified in this
breed, as well as in the Somali.

Polydactyly: Multiple toes is a common autosomal dominant trait with high penetrance and
variable expression (numbers of toes). All cats with polydactyly usually have a similarly affected
parent.

Deafness with blue eyes: The autosomal dominant white (W) gene can cause deafness in
cats. Not all white, blue eyed cats are due to the W gene, and therefore can have normal hearing.
There is also a possibly of incomplete penetrance of deafness with the W gene. Other blue eyed
cats (Siamese and Burmese, etc.) have blue eyes due to the C gene, and have normal hearing.
There are also other sensioneural deafness syndromes identified in cats.
 Black skin spots on orange cats, especially around the mucous membranes of the mouth,
nose, and eyelids are due to somatic back mutations of the orange to the black gene during cell
regeneration. These occur and increase in frequency with age, but are a normal occurrence and
require no treatment.

Calico and Tortoiseshell cats are all expected to be females, as the black and orange genes
are alleles on the X-chromosome. To have both colors on the same cat, you would need two X-
chromosomes to carry the two different alleles. Occasionally male calico or tortoiseshell cats are
seen. These are most often males with Klinefelter's syndrome (XXY), or individuals with various
forms of chimeric genotypes from the fusion of two fertilized eggs in utero. Fertile male calico or
tortoiseshell cats with normal XY sex chromosomes are usually due to a back mutation of the color
allele from orange to black in a subpopulation of their cells during fetal development.