2015年12月12日

精蟲染色體異常率約10%
父親年齡越大胚胎異常率越高(主要染色體21, XY, 18, 13)
父親年齡越大合併新生兒異常率亦提高(如列表提高1-5倍)
http://www.rbej.com/content/13/1/35


On average, 10% of sperm cells of healthy male population have chromosomal aneuploidies and include chromosome 21 and 22 [158]. However, this number increases with paternal age [159]. The incidence of sex chromosome disomy 18 significantly increases among older men (>50 years) when compared to younger men [159]. McIntosh et al. reported increased risk of up to two fold among fathers of 50 years and older when compared to the fathers of age group 25–29 years[160]. Table 3 summarizes the effect of paternal age on chromosomal aneuploidies

Table 3

Effects of paternal age on some of the chromosomal aneuploidies
Type of chromosomal aneuploidyRelative riskReference
Trisomy 21[160]
Trisomy 18Mixed[161]-[163]
Trisomy 13Mixed[161]
Trisomy 16No affect[164]
Trisomy 15No affect[165],[166]
47,XXYMixed[167]
45, XMixed[168]

Table 4

Effect of paternal age on various disorders showing effect of age and relative risk ratio
Type of disorderDisorderAge (Reference age)Relative riskReference
Neuro-cognitiveAutism>45(<20)3.3[205]
>50(<30)5.75[226]
>50(<29)2.2[142],[227]
Bipolar disorder>55(20–24)1.34[219]
Not specified1.20[220]
>45(20–24)24.7 (Hazard Ratio)[14],[206]
SchizophreniaNot specified1.47[207]
Autosomal dominant>50(25–29)1.66[214],[215]
>32(<28)3.00[13]
>55(25)5.92[211],[213],[216]
Achondroplasia>30(<30)3.48[234]
>50(25–29)7.80[236]
Apert syndrome--[235]-[237]
Neurofibromatosis I>35 (<35)1.69[238]
>40(<30)2.9[239]
Osteogenesis imperfecta22-801.37[13]
>35(<35)1.62[240]
>35(<25)--
Retinoblastoma>35(Not specified)1.73[241]
>453.00[242]
Congenital AbnormalitiesCleft LipsNot specified[243]
Anencephaly>40[11]
Transposition of Great Vessels>45 > 401.27[11]
1.20
Ventricular Septal Defects>353.63[160]
30–341.69
(25–29)
Artrial Septal Defect35-391.95[160]
(25–29)1.2
40–44
(25–29)
Neural tube defect45-491.3[160]
(25–29)
>50(25–29)1.6[160]
35-390.6[244]-[246]
(20–29)
>50(25-292.3[244]-[246]
MSA>35(30–34)1.33[246]
Tracheoesophageal fistula30-34(<25)2.55[247]
-3.12[248]
-1.34[248]
OthersOCD>401.14[248]
Childhood CNS Tumor>35-391.11[248]
(25–29)
Childhood Leukemia>35-391.29[248]
(25–29)
Mood disorder>35-391.07[249]
(25–29)
Personality disorder---[249]
Mental retardation--[249]
Pervasive developmental disorders--[249]

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