New 염색체질환 Chromosome Disorders Back to Basiclabmed.hallym.ac.kr/education/cytogen_disease.pdf · 2012. 6. 10. · Back to Basic Double Y Males Karytype : 47,XYY Incidence

Back to Basic 염색체질환 Chromosome Disorders

Back to Basic Genetic Disorders

● Chromosome Disorders • Autosome : Down, Patau, Edwaeds, Cri-du-Chat

• Sex chromosome : Klinefelter, Turner, XYY

● Single-Gene Defects Cystic fibrosis,

Sickle cell anemia,

Marfan syndrome

● Multifactorial Inheritance • Cleft lip & palate,

• Congenital heart diseases,

• Alzheimer disease

• Diabetes, Hypertension

http://blog.naver.com/hyouncho2/60096314297


Back to Basic Clinically Important Autosomal Abnormalities

Trisomy: 21, 18, 13, 8, 22, 9,

mosaicism for trisomic and normal cells

Partial Trisomy (duplication): 1q, 13q, 9p, 4p, 10q,

11q, 7q, 14q, 1q, 3p, 4q, 8q, 10p, 11p, 15q, 20p

Monosomy: 21, 22

Partial Monosomy (deletion of part): 5p, 13q, 4p, 18p,

18q, 11q, 7p, 9p, 12p

Polyploidy : Triploidy, Tetraploidy

Chromosome breakage: Fanconi anemia, Bloom syndrome, Ataxia telangiectasia, Xeroderma pigmentosa

Back to Basic Down Syndrome (Trisomy 21)

Type Karyotype Incidence Mat. age

Trisomy 21 47,XX,+21 95% Increased

Translocation 46,XX,der(14;21)(q10;q10),+21 4-5% Normal

46,XX,+21,der(21;22)(q10;q10)

Mosaicism 46,XX/47,XX,+21 1% Normal

Clinical Features (1 in 850 births) mental retardation, flat facial profile, oblique palpabral fissure, muscle hypotonia, hyperflexibility, abundant neck skin, epicanthic folds, broad and short trunk, dysplastic ears, Simian crease(猿線), dysplastic pelvis, acute leukemias



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Maternal age dependence on incidence of trisomy 21 at birth and at time of amniocentencis.

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Nondisjunctional phenomenon on meiosis

47,XY,+21

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

46,XY,+21,rob(21;21)(q10;q10)

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Chromosomes of gametes that theoretically can be produced by a carrier of a Robertsonian translocation

Robertsonian translocation 14q21q

45.XX,rob(14;21)

Down syndrome with downslanting palpebral fissures and a slightly protruding tongue.

Wide “sandal” gap

Prominent epicanthal fold light smudgy opaque pupil, called a Brushfield spot.

Simian crease (bilateral single palmar crease)

Back to Basic Patau Syndrome (Trisomy 13)

Karyotype Incidence

Trisomy 13 47,XX,+13 >80%

Translocation 46,XX,+13,der(13q;Dq) 10%

Mosaicism 47,XX,+13/46,XX 5%

Clinical Features (1 in 6000 births) microcephaly and mental retardation, scalp defect,

microphthalmia, cleft palate, polydactyly, rocker-botton feet, abnormal ears, apneic spells and myotonic seizures, cardiac dextroposition and VSD, extensive visceral defects

cleft palate, atrial septal defect, inguinal hernia, and postaxial polydactyly of the left hand.

Polydactyly, particularly of all extremities, strongly suggests trisomy 13.

Back to Basic Edwards Syndrome (Trisomy 18)

Karyotype Incidence

Trisomy 18 47,XX,+18 90%

Translocation 46,XX,+18,t(?;18q) rare

Mosaicism 47,XX,+18/46,XX 10%

Clinical feature (1 in 7,500 births) mental retardation, failure to thrive, prominent occiput,

micrognathia & low-set ears, hypertonia, clenched fist,

cardiac, renal & intestinal defects, short sternum & small pelvis, abduction deformity of hip

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Mental retardation, Failure to thrive, Prominent occiput, Micrognathia and Low-set ears, Hypertonia, Overlapping fingers (clenched fist) Cardiac, renal & intestinal defects, Short sternum & Small pelvis, Abduction deformity of hip

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A child with multiple congenital anomalies with small face, micrognathia small chest & low-set ear

Back to Basic Cri du Chat (Cat-cry) Syndrome

Karyotype : 46,XX,5p- 46,XY,5p- Incidence : 1 in 50,000 births Maternal age : Normal Clinical features severe mental retardation microcephaly & round facies mewing cry, hypertelorism epicanthic folds, low-set ears, micrognathia, heart defect

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Back to Basic Wolf-Hirschhorn Syndrome

Karyotype : 46,XX,4p- 46,XY,4p-

Incidence : 1 in 50,000 births

Maternal age : Normal

Clinical features

mental retardation,

microcephaly & abnormal facies, cardiac, renal, & genital abnormalities.

Most are stillborn or die in infancy wide-spaced eyes and repaired cleft lip

46,XY,del(4)(p16)

Back to Basic Prader-Willi Syndrome

Definetion: a syndrome characterized by infantile hypotonia, hypogonadism, and obesity

Epdermiology:

• incidence: 1/10,000 - 1/25,000 live births • age of onset: newborn • risk factors: paternal chromosomal damage

Back to Basic DiGeorge Syndrome (DGS)

22q11 Deletion Syndrome Velocardiofacial Syndrome (VCFS)

Disease characteristics: • Congenital heart disease (74%) • Palatal abnormalities (69%) • Characteristic facial features • Learning difficulties (70 - 90%)

Diagnosis: 22q11 submicroscopic deletion Genetic counseling. 94% of probands have a de novo deletion of 22q11

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G-Banding FISH

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Double Y Males

Karytype : 47,XYY Incidence : 1 in 1000 male births Clinical features : Phenotypically normal, Most over 6 feet tall, Increased aggressive behavior(?)

Karytype : 47,XXX 48,XXXX Incidence : 1 in 1200 female births Clinical features : Mental retardation, Menstrual irregularities, Many normal and fertile

Multiple X Females

Karytype : 46,XX(most cases) 46,XX/47,XXY 46,XX/46,XY(rare) Incidence : rare Clinical features : Testicular and ovarian tissue Varying genital abnormalities

True Hermaphroditism



Back to Basic Klinefelter Syndrome

Incidence 1 in 850 male births Karyotyoe 47,XXY (classic) 46,XY/47,XXY

Clinical feature : testicular atrophy, azospermia, eunuchoidism, gynecomastia, female hair distribution, mental retardation

Turner Syndrome (Gonadal Dysgenesis)

Incidence : 1 in 3000 female births Karyotype : 45,X (classic type) 46,X,i(Xq) 45,X/46,XX

46,XXp- 46,XXq- 46,X,r(X) Clinical features short stature, primary amenorrhea, infertility, webbing of neck, cubitus valgus, peripheral lymphedema,

broad chest & wide-spread nipples



Back to Basic Fragile X Syndrome

Incidence : about 1 in 1500 males. Affected female carriers are typically normal.

Most of the affected males have mental retardation, and their testes are larger than normal.

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여자보다 더 아름다운 그녀 하리수

(26세· 본명 이경엽)

SEX REVERSAL TRANSGENDER

Back to Basic 168cm, 48kg, 35-24-35

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여성 가성반음양증

(female pseudohermaphroditism)

빈도 : 5,000-15,000 출생아당 1명

자궁, 질강, 난소는 정상 외성기는 애매모호하거나 남성화

선천성부신과형성증 이 주원인 21-hydroxylase deficiency 17-hydroxyprogesterone 증가 염색체검사 : 46,XX

남성 가성반음양증 (male pseudohermaphroditism)

Pseudohermaphroditism (假性半陰陽症)

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Hypospadias (尿道下裂) Cryptorchism (潛伏睾丸)

Cystourethrogram

(방광요도조영술)



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Hermes Aphrodite

Hermaphrodite

Bangkok Thailand May, 2001

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Documents

New 염색체질환 Chromosome Disorders Back to Basiclabmed.hallym.ac.kr/education/cytogen_disease.pdf · 2012. 6. 10. · Back to Basic Double Y Males Karytype : 47,XYY Incidence