MILLER-DIEKER SYNDROME - LISSENCEPHALY AND MONOSOMY-17P
MILLER-DIEKER SYNDROME - LISSENCEPHALY AND MONOSOMY-17P
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DOI：
10.1016/s0022-3476(83)80183-8
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发表时间：
1983-01-01
影响因子：
5.1
通讯作者：
LEDBETTER, DH
中科院分区：
文献类型：
--
作者：
DOBYNS, WB;STRATTON, RF;LEDBETTER, DH
Miller-Dieker综合征包括无脑畸形和特征性表型外观，据报道具有常染色体隐性遗传模式。3例无血缘关系的患者中有2例17号染色体异常，其中1例为环状17号染色体，另1例为不平衡易位，导致17 p13部分单体性。文献回顾显示3个家族中的5例患者患有Miller-Dieker综合征和17 p异常。远端17 p单体可能是部分患者发生Miller-Dieker综合征的原因。
Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, was reported to have an autosomal recessive pattern of inheritance. Abnormalities of chromosome 17 were found in 2 of 3 unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation resulting in partial monosomy of 17p13. A review of the literature revealed 5 additional patients in 3 families who had Miller-Dieker syndrome and an abnormality of 17p. Monosomy of distal 17p may be the cause of Miller-Dieker syndrome in some patients.