Karyotype Curiosities

Karyotype Karyotype CuriositiesCuriosities

Visual AidsVisual Aids

FertilizationFertilization The fusion of a sperm and egg to form a zygote.The fusion of a sperm and egg to form a zygote.

Once an egg is fertilized, the Once an egg is fertilized, the zygotezygote will go will go through mitosis to create more cells.through mitosis to create more cells.

The new cells created are The new cells created are stem cellsstem cells until they until they are are differentiateddifferentiated (told what to become) (told what to become)

eggn=23

haploid

Spermn=23

haploid

Zygoten=46

diploid2n

2n

2n

2n

2n2n2n

2n

2n

2n

Stem CellsDiploid=2n

MITOSIS

What is a karyotype?What is a karyotype?

The actual The actual chromosomal chromosomal map of a cellmap of a cell

Is this cell Is this cell haploid or haploid or diploid?diploid?

How do you How do you know?know?

Why are these Why are these chromosomes in chromosomes in X’s?X’s?

Is this a karyotype Is this a karyotype of a haploid or of a haploid or diploid cell?diploid cell?

How do you know?How do you know?

What What makes a makes a male male and and female female differendifferent?t?

MALE

FEMALE

Trisomy & MonosomyTrisomy & Monosomy Caused by Caused by

chromosomes chromosomes not not separating separating completely completely during during meiosismeiosis

Patau SyndromePatau Syndrome(Trisomy 13)(Trisomy 13)

Patau SyndromePatau Syndrome(Trisomy 13)(Trisomy 13)

Facial Facial abnormalities abnormalities found in an infant found in an infant with Patau with Patau syndrome. syndrome.

Patau SyndromePatau Syndrome(Trisomy 13)(Trisomy 13)

Infant with Patau Infant with Patau syndrome syndrome demonstrating demonstrating facial birth defects.facial birth defects.

Brain, heart, & Brain, heart, & spinal cord defectsspinal cord defects

Smaller eyesSmaller eyes

Patau SyndromePatau Syndrome(Trisomy 13)(Trisomy 13)

A rare case of A rare case of Patau Syndrome Patau Syndrome survivalsurvival

Patau SyndromePatau Syndrome(Trisomy 13)(Trisomy 13)

Polydactyly and Polydactyly and digit fusion in digit fusion in Patau patientsPatau patients

Edward’s SyndromeEdward’s Syndrome(Trisomy 18)(Trisomy 18)

Edward’s SyndromeEdward’s Syndrome(Trisomy 18)(Trisomy 18)

““Clubbed” hands Clubbed” hands typical of Edward’s typical of Edward’s syndrome.syndrome.

This picture was This picture was taken with taken with ultrasound and ultrasound and shows the clubbed shows the clubbed hands hands in uteroin utero..

Edward’s SyndromeEdward’s Syndrome(Trisomy 18)(Trisomy 18)

Edward’s Edward’s syndrome patient syndrome patient confined to confined to wheelchair wheelchair because of bone because of bone abnormalities.abnormalities.

Down SyndromeDown Syndrome(Trisomy 21)(Trisomy 21)

Down SyndromeDown Syndrome(Trisomy 21)(Trisomy 21)

Mild to moderate Mild to moderate mental disabilitymental disability

Short statureShort stature Simian crease in Simian crease in

handhand Flat nasal bridgeFlat nasal bridge

Down SyndromeDown Syndrome(Trisomy 21)(Trisomy 21)

White spots on iris White spots on iris called Brushfield called Brushfield spots result from spots result from abnormal abnormal aggregation of aggregation of connective tissue.connective tissue.

Jacob’s SyndromeJacob’s Syndrome (extra Y chromosome) - (extra Y chromosome) -

XYYXYY

Jacob’s Syndrome (extra Y Jacob’s Syndrome (extra Y chromosome)chromosome)

Taller than normal malesTaller than normal males Speech problemsSpeech problems Weaker musclesWeaker muscles Delayed pubertyDelayed puberty AggressionAggression Normal appearanceNormal appearance

Klinefelter SyndromeKlinefelter Syndrome(extra X chromosome in (extra X chromosome in

males) XXYmales) XXY

Klinefelter SyndromeKlinefelter Syndrome(extra X chromosome in (extra X chromosome in

males) XXYmales) XXY Male appearanceMale appearance Underdeveloped Underdeveloped

testestestes Breast enlargedBreast enlarged Less body hairLess body hair Usually sterileUsually sterile

Trisomy X (XXX)Trisomy X (XXX)

Trisomy X (XXX)Trisomy X (XXX)

No major physical differencesNo major physical differences Some may have delayed speechSome may have delayed speech Taller until pubertyTaller until puberty Scoliosis in some casesScoliosis in some cases

Turner Syndrome Turner Syndrome (monosomy X)(monosomy X)

Turner Syndrome Turner Syndrome (monosomy X)(monosomy X)

Turner Syndrome Turner Syndrome (monosomy X)(monosomy X)

Cri du chat SyndromeCri du chat Syndrome(chromosome 5 deletion)(chromosome 5 deletion)

Cri du chat SyndromeCri du chat Syndrome(chromosome 5 deletion)(chromosome 5 deletion)

Rounded, moonlike facesRounded, moonlike faces Catlike CriesCatlike Cries Mental RetardationMental Retardation

Cri du chat SyndromeCri du chat Syndrome(chromosome 5 deletion)(chromosome 5 deletion)

Cri du chat SyndromeCri du chat Syndrome(chromosome 5 deletion)(chromosome 5 deletion)

Cri du chat SyndromeCri du chat Syndrome(chromosome 5 deletion)(chromosome 5 deletion)

Abnormal Abnormal outer ear outer ear (pinna)(pinna)