Karyotype Disorders

- 46,XY,der(14;21)(q10;q10),+21

- Translocation Down Syndrome

- Robertsonian translocation of chromosomes 14 and 21

- Epicanthal folds

- Elongated upper eyelid folding over the inner corner of the eye

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 47,XX,+21

- Classical Down Syndrome

- Trisomy 21

- Epicanthal folds

- Elongation of skin on upper eyelid forming a fold over the medial corner of the eye

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 46,XX,del(5)(p15.3)

- Cri-du-chat syndrome

- Deletion on chromosome 5, short arm, region 1, band 5, sub-band 3

- Cat like infant cries; Down-slanted palpebral fissures

- Down slanted eyelids

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 47,XYY

- Jacob's syndrome/Diplo-Y

- Uniparental disomy Y

- Increased length vs breadth of: ears; hands; fingers; feet & toes

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 47,XY,+18

- Edward's Syndrome

- Trisomy 18

- Clenched hand with overlapping fingers

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 47,XXY

- Klinefelter's Syndrome

- Uniparental disomy (can be maternal XX or paternal XY)

- Gynaecomastia, tall stature, hypogonadism

- Male breast development, underperformance of testes

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 47,XY,+13

- Patau Syndrome

- Trisomy 13

- Cutis aplasia of the scalp

- Lesions in skin on scalp

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 47,XXX

- Triple X syndrome

- Trisomy X

- Long limbs compared to torso (generally almost normal development)

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 69, XXY

- triploid syndrome

- triploidy

- Ocular hypertelorism

- Wide set eyes

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 45,X0

- Turner syndrome

- Monosomy X

- Pterygium colli deformity

- Webbed skin on lateral sides of the neck

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 46,XX,del(4)(p.16.3)

- Wolf-Hirschhorn Syndrome

- Deletion on chromosome 4, short arm, region 1, band 6, sub-band 3

- Ocular hypertelorism

- Wide-set eyes

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 45,XY,der(14;21)(q10;q10)

- Balanced translocation

- Robertsonian translocation of chromosome 21 to 14

- Normal phenotype but reduced chance of producing healthy offspring

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 46,XY

- Normal male

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious

- 46,XX

- Normal female

Name:

- Correctly written karyotype

- Common name

- Scientific name

- One distinguishing clinical feature

- Definition of this feature if not obvious