CHROMOSOMES

Rod shaped structures made of DNA & Protein

What Are Chromosomes?

DNA

DNA stores the genetic information that cells will use

Proteins- sphere shaped structures that the DNA wraps around

Proteins

Chromosome Shape

Chromatids Centromere

Chromosome Untwined

CENTROMERES/ CHROMATIDS
Centromere- holds the chromatids together Chromatids- identical sides of the chromosomes
Contain same genetic information on both sides

Chromatin
Chromososomes are only present during cell division. In between cell division chromosomes are unraveled and called Chromatin

PROKARYOTIC VS EUKARYOTIC CHROMOSOMES

Prokaryotic Chromosomes circular, smaller, NOT in Nucleus
Chromosome

Eukaryotic Larger, rod shaped, in Nucleus

Chromosome Numbers
Organism Fruit Fly Carrot & Lettuce Cat Earthworm Human Gorilla Sand Dollar Adders Tongue Fern # of chromosome 8 18 32 36 46 48 52 1262

Chromosome Numbers
Chromosome Genes Total base pairs Sequenced base pairs

1
2 3 4 5 6

4,220
1,491 1,550 446 609 2,281

247,199,719
242,751,149 199,446,827 191,263,063 180,837,866 170,896,993

224,999,719
237,712,649 194,704,827 187,297,063 177,702,766 167,273,993

Chromosome Numbers
7 8 9 10 11 12 2,135 1,106 1,920 1,793 379 1,430 158,821,424 146,274,826 140,442,298 135,374,737 134,452,384 132,289,534 154,952,424 142,612,826 120,312,298 131,624,737 131,130,853 130,303,534

Chromosome Numbers
13 14 15 16 924 1,347 921 909 114,127,980 106,360,585 100,338,915 88,822,254 95,559,980 88,290,585 81,341,915 78,884,754

17
18

1,672
519

78,654,742
76,117,153

77,800,220
74,656,155

Chromosome Numbers
19 20 21 22 X (sex chromosome) Y (sex chromosome) Total 1,555 1,008 578 1,092 63,806,651 62,435,965 46,944,323 49,528,953 55,785,651 59,505,254 34,171,998 34,893,953

1,846

154,913,754

151,058,754

454

57,741,652

25,121,652

32,185

3,079,843,747

2,857,698,560

Which is more complex in terms of functions & intelligence?

Adders Tongue Fern

Human

OR

OK Bad Example

Two Types of Chromosomes

SEX Chromosomes
Determine the gender of the individual Carry few other traits 2 of the 46 chromosomes

AUTOSOMES
Carry most of the traits that we inherit 44 of the 46 chromosomes

SEX Chromosomes

XX =
XY =

HOMOLOGOUS CHROMOSOMES
A pair of autosomes that have the identical trait for a certain characteristic (eye color). You receive one of the homologous pairs from your father and one homologous pair from your mother Humans have 44 autosomes (minus the 2 sex chromosomes) so they have 22 pairs of homologous autosomes Homologous chromosomes are the same size and shape

KARYOTYPE
A picture taken from a microscope of all the chromosomes within a cell. The chromosomes are then arranged in homologous pairs and given a set of numbers

KARYOTYPE

KARYOTYPE

Diploid vs Haploid Cells

Diploid
Description
Both sets of homologous chromosomes present

Haploid
Only one of each homologous chromosome present

Type of Cell

Abbreviation

All cells but sex cells (egg or sperm) 2n

Only sex cellsEgg or Sperm 1n

Chromosomal Abnormalities
chromosome anomaly, abnormality or aberration reflects an atypical number of chromosomes or a structural abnormality in one or more chromosomes. A chromosome anomaly may be detected or confirmed in this manner. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. There are many types of chromosome anomalies. They can be organized into two basic groups, numerical and structural anomalies.

Numerical Anomalies
Aneuploidy is an abnormal number of chromosomes, and is a type of chromosome abnormality. An extra or missing chromosome is a common cause of genetic disorders (birth defects). Some cancer cells also have abnormal numbers of chromosomes. Aneuploidy occurs during cell division when the chromosomes do not separate properly between the two cells. Chromosome abnormalities occur in 1 of 160 live births. The most common extra chromosomes among live births are 21, 18 and 13

Numerical Anomalies
Polysomy is a condition in which an organism has at least one more chromosome than normal. There may be three or more copies of the chromosome rather than the expected two copies. Polysomy is usually caused disjunction (the failure of of homologous chromosomes to during meiosis, but may also be translocation mutation. by nona pair separate) due to a

Numerical Anomalies
Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair. Partial monosomy occurs when only a portion of the chromosome has one copy, while the rest has two copies. Deletion (also called gene deletion, deficiency, or deletion mutation) is a mutation in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. Deletions can be caused by errors in chromosomal crossover during meiosis.

Polysomies
Down syndrome or trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents due to increased mutagenic exposures upon some older parents' reproductive cells.

Down Syndrome

Polysomies
Trisomy 18 (T18) (also known as Trisomy E or Edwards syndrome) is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. The incidence of the syndrome is estimated as one in 3,000 live births.[2] The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders.

Edwards Syndrome

Polysomies
Patau syndrome, also known as trisomy 13 and trisomy D. Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes.

Pataus Syndrome

Polysomies
Trisomy 9 is a chromosomal disorder caused by having three copies (trisomy) of chromosome number 9. Symptoms vary, but usually result in dysmorphisms in the skull, nervous system, and mental retardation. Dysmorphisms in the heart, kidneys, and musculoskeletal system may also occur. An infant with complete trisomy 9 surviving 20 days after birth showed clinical features including a small face, low set ears, up slanting palpebral fissures, high arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and also a webbed neck

Trisomy 9

Polysomies
Trisomy 8 is a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. Individuals with trisomy 8 mosaicism are more likely to survive into childhood and adulthood, and exhibit a characteristic and recognizable pattern of developmental abnormalities. Common findings include retarded psychomotor development, moderate to severe mental retardation, variable growth patterns which can result in either abnormally short or tall stature, an expressionless face, and many musculoskeletal, visceral, and eye abnormalities, as well as other anomalies.

Trisomy 8

Polysomies
Cat Eye Syndrome (aka. CES) is a rare condition caused by the short arm and a small section of the long arm of human Chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times. The term "Cat Eye" syndrome was coined because of the particular appearance of the eyes of some patients. However, over half of the CES patients in the literature do not present with this trait.

Cats Eye Syndrome

Polysomies
Trisomy 16 is a chromosomal abnormality in which there are three copies of chromosome 16 rather than two. It is the most common chromosomal cause of miscarriage during the first trimester of pregnancy.

Monosomies and Deletions

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeunes syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children.

Monosomies and Deletions

About 1/3 of children lose the cry by age 2. Other symptoms of cri du chat syndrome may include: feeding problems because of difficulty swallowing and sucking. low birth weight and poor growth. severe cognitive, speech, and motor delays. behavioral problems such as hyperactivity, aggression, tantrums, and repetitive movements. unusual facial features which may change over time. excessive drooling. constipation.

Cri du Chat

Monosomies and Deletions

Williams syndrome is a rare neurodevelopmental disorder. It is caused by a deletion of about 26 genes from the long arm of chromosome 7 The most common symptoms of Williams syndrome are mental disability, heart defects, and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy and low muscle tone. Most individuals with Williams syndrome are highly verbal and overly sociable, having what has been described as a "cocktail party" type personality, and exhibit a remarkable blend of cognitive strengths and weaknesses.

Williams Syndrome

Monosomies and Deletions

DiGeorge Syndrome is a syndrome caused by the deletion of a small piece of chromosome 22. Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velopharyngeal insufficiency), learning disabilities, mild differences in facial features, and recurrent infections due to the abnormalities in the T-cells.

DiGeorge Syndrome

Monosomies and Deletions

Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11.
Heart defects Mild to severe intellectual disabilities Low-platelets (thrombocytopenia) Facial/skeletal (dysplasia) Wide-set eyes caused by trigonocephaly Folding of the skin near the eye (epicanthus) Short, upturned nose (anteverted nostrils) Thin lips that curve inward Displaced receding chin (retrognathia) Low-set, misshapen ears Permanent upward curvature of the pinkie and ring fingers (camptodactyly) Large great toes/Hammer toes

Jacobsen Syndrome

Monosomies and Deletions

Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11.
Heart defects Mild to severe intellectual disabilities Low-platelets Facial/skeletal Wide-set eyes caused by Folding of the skin near the eye Short, upturned nose Thin lips that curve inward Displaced receding chin Low-set, misshapen ears Permanent upward curvature of the pinkie and ring fingers Large great toes/Hammer toes

Monosomies (Sex Linked)

Sex Linked anomalies chromosomes (XY) in the sex

Turner syndrome encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent.

Monosomies (Sex Linked)

There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks. Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Congenital heart disease, hypothyroidism (reduced hormone secretio n by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases. Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visiuospatial, mathematical, and memory areas

Turners Syndrome

Polyploidy (Sex Linked)

Klinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome. Because of the extra chromosome, individuals with the condition are usually referred to as "XXY Males", or "47, XXY Males

Polyploidy (Sex Linked)

Klinefelter syndrome is the most common sex chromosome disorder in males and the second most common condition caused by the presence of extra chromosomes. The condition exists in roughly 1 out of every 500-650 males. Principal effects include hypogonadism and reduced fertility. A variety of other physical and behavioral differences and problems are common, though severity varies and many boys and men with the condition have few detectable symptoms.

Kleinfelters Syndrome

Polyploidy (Sex Linked)

48,XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. The appearance of at least one Y chromosome makes a male. Therefore, XXYY only affects males. Males affected with XXYY syndrome have 48 chromosomes instead of the typical 46

It is estimated that XXYY affects one in every 18,000-40,000 male births

XXYY Syndrome
Developmental delays Speech impairment Behavior outburst & mood swings Learning disabilities Intellectual impairment Autism spectrum disorders Tall Scoliosis Low muscle tone Flat feet Sterility Delayed sexual development

XXYY Syndrome

Polyploidy (Sex Linked)

Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. The condition always produces females, with an XX pair of chromosomes, as well as an additional chromosome. Triple X syndrome most often causes no unusual physical features or medical problems.

Triple X Syndrome
But there are rare cases when a female with Triple X syndrome is affected by changes such as tall stature, behavioral problems, clumsiness, poor coordination, midfacial hypoplasia, wide-set eyes, epicanthic fold, amenorrhea, posteriorly rotated ears, small head, long head, small lower jaw, expressionless face, prominent forehead, enamel hypoplasia, widely spaced nipples, small hands, small feet, kyphosis, lordosis, reduced muscle tone, ovarian failure, mental retardation, and infertility. There are also signs of learning and speech disabilities.

Polyploidy (Sex Linked)

XXXX syndrome (also called tetrasomy X, quadruple X, or 48, XXXX) is a rare chromosomal disorder caused by the presence of four X chromosomes. This condition occurs only in females, as there are no Y chromosomes present. Due to the variability of symptoms, some tetrasomy X girls are able to function normally, whereas others will need medical attention throughout their lives. Traditionally, treatment for tetrasomy X has been management of the symptoms and support for learning. Most girls are placed on estrogen treatment to induce breast development, arrest longitudinal growth, and stimulate bone formation to prevent osteoporosis.

XXXX / Tetrasomy X
Symptoms of tetrasomy X are highly variable, ranging from relatively mild to severe. Physically, tetrasomy X patients tend to have distinctive facial features such as epicanthal folds, flat nasal bridges, upslanting palpebral fissures, midface hypoplasia, small mouths, cleft or high arched palates, delayed or absent teeth, or enamel defects. The majority have also been reported as being longer and taller. Many also show joint and muscle tone abnormalities, including hypotonia and joint looseness in the hips. Skeletal problems may also be present, including abnormal curvatures of the spine.

XXXX / Tetrasomy X

Polyploidy (Sex Linked)

XYY syndrome is an aneuploidy (abnormal number) of the sex chromosomes in which a human male receives an extra Y-chromosome, giving a total of 47 chromosomes instead of the more usual 46. This produces a 47,XYY karyotype. 47,XYY boys have an increased risk of learning difficulties (in up to 50%), and delayed speech and language skills.

XYY Syndrome
Most often, the extra Y-chromosome causes no unusual physical features or medical problems. 47,XYY boys have an increased growth velocity during earliest childhood, with an average final height approximately 7 cm (3 in) above expected final height. Testosterone levels (prenatally and postnatally) are normal in 47,XYY males. Most 47,XYY males have normal sexual development and usually have normal fertility.

Polyploidy (Sex Linked)

49, XXXXX syndrome (also called pentasomy X or 49,XXXXX) is the presence of three additional X chromosomes. Approximately 25 females have been described in medical literature worldwide with this extremely rare condition. XXXXX syndrome causes mental, growth, and motor retardation. There is occasional delayed puberty. Recent observations have indicated an average of a 10 to 15 IQ point decrease for each extra X chromosome. Thus, the average IQ of XXXXX individuals tends to be between 55 and 70.

49, XXXXX Syndrome

XXXXX syndrome is associated with microcephaly (undersized skull), micrognathia (undersized jaw), and round face. The ears are generally low-set and malformed. Eyes are upslanting and show palpebral fissures, hypertelorism, and strabismus. Usually the nose is shaped with a broad and depressed nasal bridge and epicanthus, with the mouth having a cleft and highly arched palate, dental abnormalities, and thick, furrowed, and everted lips.

49, XXXXX Syndrome

The heart is usually affected by patent ductus arteriosus, atrial septal defect, ventricular septal defect, and aortic dextroposition. There is abnormal lobulation of the lungs and neonatal asphyxia. The ovaries are abnormally shaped with a small uterus and kidney hypoplasia.

49, XXXXX Syndrome