医学遗传学Chromosome12b.pptVIP

Trisomy 21 Down’s syndrome Most common trisomy 1:800 in new born Most common sever mental retardation Trisomy 18 Edward’s syndrome 1:7500 in liveborn and more common in abortion and stillbirth Sever mental retardation and multiple structural anomalies Trisomy 18 Edward’s syndrome 47, XYY syndrome 1:1,000 in male live birth Normal intelligence and normal appearance but: Educational problem: language delays and spelling difficulties Behavioral problems: attention deficits, hyperactivity and impulsiveness Fertility problem: increase risk of chromosomal abnormal child 47, XYY syndrome 47, XXX syndrome 1:1,000 in Female live birth Normal intelligence and normal appearance A significant deficit in performance on IQ tests 70 % with some learning problems Infertility: 50% 47, XXX syndrome XXXXX Syndrome X chromosome inactivation and XIST Gene dosage compensation is achieved in all persons with two or more X chromosomes in their genetic constitution by partial inactivation of all X chromosomes except one. The process is controlled by XIST (X inactive specific transcripts) gene in Xq13.2, which encodes a large RNA that appears to coat the X chromosome and facilitate inactivation of genes on the X chromosome. During the late blastocyst stage, all X chromosomes except one undergo heterochromatinization and form X chromatin bodies in each cell. The balance of gene dosage on X chromosome is achieved. The explanation of various kinds of X polysomies in live-birth. Mosaic and chimera (2). Abnormalities of  chromosome structure Resulted from chromosome breakage and reunion. Balanced structural abnormality With normal complement of chromosomal material Unbalanced structural abnormality With loss or gain of chromosomal material a. Unbalanced structure abnormality Deletion: Loss of a chromosome segment Resulted from breakage or unequal cross-over or segregation of balanced abnormality Cri Du Chat (5p-)