염색체질환 (세포유전질환, Cytogenetic Disorders ) 

 

 

 

Normal male    : chromosome spread,  karyotype, C-banded spread

 

Normal female : chromosome spread,  karyotype

 

 

 

  

상염색체 질환 (Autosomal Disorders) 

질환명

 핵형 및 사진

 

 

Down syndrome

+21  

 

 

Edwards syndrome

+18  

 

 

Patau syndrome

+13  

 

 

Wolf-Hirschhorn syndrome

4p-  

 

 

Cri-du-chat syndrome

5p-    

 

 

Trisomy 8 syndrome

+8

 

 

Chromosome18 sydromes

Chromosome 20 ring syndrome

18p-,18q-,r(18) 18p-

 

 

  r(20)

 

 

Cat eye syndrome

 

 

 

 

미세결실증후군 (Microdeletion Syndrome)

Langer-Giedion syndrome

  del(8)(q24.1)

 

 

WAGR complex

  del(11)(p13)

 

 

Beckwith-Wiedemann synd

  dup(11)(p15)

 

 

Retinoblastoma

  del(13)(q14.11)

 

 

Prader-Willi syndrome

del(15)(q11q13)

 

 

Angelman syndrome

  del(15)(q11q13)

 

 

Thalssemia and mental retardation

  del(16)(p13.30)

 

 

Smith-Magenis syndrome

del(17)(p11.2)

 

 

Miller-Dieker syndrome/isolated lissencephaly

  del(17)(p13.3)

 

 

Charcot-Marie-Tooth synd., type 1A

  dup(17)(p11.2)

 

 

DiGeorge syndrome/ velocardiofacial syndrome/CATCH22

del(22)(q11.2)

 

 

Williams syndrome

  del(7)(q11.23)

 

 

X-linked ichthyosis/steroid sulfatase deficiency/Kallman syndrome

  del(X)(p22.3)

 

 

 

성염색체 질환 (Sex Chromosome Disorders)

Klinefelter syndrome

XXY,

 

 

Turner syndrome

XO   

 

 

XXX syndrome (Multi-X female)

XXX

 

 

XYY syndrome

XYY  

 

 

Noonan syndrome

 

 

 

Fragile X syndrome

Fra(X)(q27.3)

 

 

Hermaphroditism

Pseudohermaphroditism

 

 

 

 

기타 염색체 관련질환

Triploidy

69,XXY/XXX  

 

 

Hyperdiploidy

+15,+16

 

 

 

 

[Revised at Feb 20, 2004]