染色体畸变数目改变.pptxVIP

Alterationsinsexchromosomenumber（教材上册p142）

TurnerSyndrome(45,X)1in2500livebornfemalesCharacteristicsShortstatureWebbedneckOvariandysgenesis,primaryamenorrhea,infertilityAbsenceofsecondarysexcharacteristicsUnderdevelopedbreasts;widenipples性腺发育不全综合症

身材矮，蹼颈，肘外翻，原发性闭经，生殖器幼稚，索状性腺（结缔组织，无卵泡）。成因：早期卵裂过程中染色体不分离。

多数有生育能力，少数卵巢功能异常，2/3伴有轻度智力低下，并有患精神病的倾向。TwoofthethreeXchromosomesareinactivated.

1in800malesTallwithdisproportionatelylongarms/legsKlinefeltersyndrome(47,XXY)（克氏综合症）1in100mentallyretardedmales1in10infertilemalesPoorlydevelopedsecondarysexcharacteristicsTesticulardysgenesisAlterationsinsexchromosomenumber先天性睾丸发育不全综合征

女性体态，有女性化乳房，胡须少，皮肤较嫩；睾丸小而硬，无精子，但睾丸间质细胞不萎缩；智力低下。

1in750~1500malesTallstatureXYYsyndrome(47,XYY)1in30maleprisonpopulationsPredispositiontoviolent,criminalbehavior＞180cm:1/200＞190cm:1/30＞200cm:1/10Alterationsinsexchromosomenumber

Alterationsinautosomenumber（教材下册P41）0102

DownSyndrome(trisomy21syndrome)病因：比正常人多了一条21号常染色体唐氏综合症：智力低下，身体发育缓慢。常表现为特殊的面容,较敏感和快乐,寿命短。

CharacteristicsGrowthretardationVaryingdegreesofmentalretardationFlattenedfaceUpwardslantingoftheeyeswithepicanthalfolds1in600~800newbornsDownSyndrome(trisomy21syndrome)

皮肤折痕

DownSyndromeandMaternalAgeAsmaternalageincreases,theriskofhavingababywithDownsyndromeincreases1Atage20lessthan1in1000birthsresultsindownsyndrome2Afterage40,greaterthan1in100birthsresultsinDownsyndrome3

如果经适当教育，唐氏症患者依然可以有很好的表現

Trisomy18:Edward’sSyndrome(47,+18)01smallatbirth,veryslowgrowing,mentalretardation,malformedfeet,heartmalformations.02Forunknownreasons,80%ofliveborntrisomy18babiesarefemale.03

EdwardsSyndrome(trisomy18syndrome)

Trisomy13:PatauSyndrome(47,+13)Facialmalformations,eyedefects,extrafingersortoes,feetwithprotrudingheels,malformationsofthebrain,nervoussystem,heartdefects

FrequenciesofTrisomiesinSpontaneous