[严重畸形综合征与明显平衡的染色体异常：前脑无裂畸形与5号染色体短臂；12号染色体长臂易位]
[Major malformation syndrome and apparently balanced chromosomal abnormality: holoprosencephaly and 5p; 12q translocation].
作者信息
Cousin J, Creusy C, Croquette M F, Vittu G
机构信息
Clinique médicale infantile et des maladies infectieuses, Hôpital Saint-Antoine, Lille.
出版信息
J Genet Hum. 1988 Jan;36(1-2):83-8.
PMID:3288708
Abstract
Observation of holoprosencephaly associated to chromosomic aberration (balanced translocation 5p; 12q); genetic council may be difficult in case of familial translocation.
摘要
与染色体畸变（5号染色体短臂与12号染色体长臂平衡易位）相关的前脑无裂畸形的观察；在家族性易位的情况下，遗传咨询可能会很困难。
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