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 aneuploidy | Relative risk | Reference |
Trisomy 21 | ↑ | [160] |
Trisomy 18 | Mixed | [161]-[163] |
Trisomy 13 | Mixed | [161] |
Trisomy 16 | No affect | [164] |
Trisomy 15 | No affect | [165],[166] |
47,XXY | Mixed | [167] |
45, X | Mixed | [168] |
Table 4 | ||||
Effect of paternal age on various disorders showing effect of age and relative risk ratio | ||||
Type of disorder | Disorder | Age (Reference age) | Relative risk | Reference |
Neuro-cognitive | Autism | >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 specified | 1.20 | [220] | ||
>45(20–24) | 24.7 (Hazard Ratio) | [14],[206] | ||
Schizophrenia | Not specified | 1.47 | [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 imperfecta | 22-80 | 1.37 | [13] | |
>35(<35) | 1.62 | [240] | ||
>35(<25) | - | - | ||
Retinoblastoma | >35(Not specified) | 1.73 | [241] | |
>45 | 3.00 | [242] | ||
Congenital Abnormalities | Cleft Lips | Not specified | [243] | |
Anencephaly | >40 | [11] | ||
Transposition of Great Vessels | >45 > 40 | 1.27 | [11] | |
1.20 | ||||
Ventricular Septal Defects | >35 | 3.63 | [160] | |
30–34 | 1.69 | |||
(25–29) | ||||
Artrial Septal Defect | 35-39 | 1.95 | [160] | |
(25–29) | 1.2 | |||
40–44 | ||||
(25–29) | ||||
Neural tube defect | 45-49 | 1.3 | [160] | |
(25–29) | ||||
>50(25–29) | 1.6 | [160] | ||
35-39 | 0.6 | [244]-[246] | ||
(20–29) | ||||
>50(25-29 | 2.3 | [244]-[246] | ||
MSA | >35(30–34) | 1.33 | [246] | |
Tracheoesophageal fistula | 30-34(<25) | 2.55 | [247] | |
- | 3.12 | [248] | ||
- | 1.34 | [248] | ||
Others | OCD | >40 | 1.14 | [248] |
Childhood CNS Tumor | >35-39 | 1.11 | [248] | |
(25–29) | ||||
Childhood Leukemia | >35-39 | 1.29 | [248] | |
(25–29) | ||||
Mood disorder | >35-39 | 1.07 | [249] | |
(25–29) | ||||
Personality disorder | -- | - | [249] | |
Mental retardation | - | - | [249] | |
Pervasive developmental disorders | - | - | [249] |
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