Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations.
第一作者:
S,Cavani
第一单位:
Laboratorio di Genetica Umana, EO Ospedali Galliera, Genova, Italy.
作者:
主题词
畸形, 多发性(Abnormalities, Multiple);成年人(Adult);染色体, 人, 1对(Chromosomes, Human, Pair 1);染色体, 人, 6对(Chromosomes, Human, Pair 6);诊断, 鉴别(Diagnosis, Differential);家庭(Family);致命性结局(Fatal Outcome);女(雌)性(Female);胎儿生长迟缓(Fetal Growth Retardation);遗传咨询(Genetic Counseling);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);系谱(Pedigree);妊娠(Pregnancy);妊娠末期(Pregnancy Trimester, Third);产前诊断(Prenatal Diagnosis);端脑(Telencephalon);易位, 遗传(Translocation, Genetic)
DOI
10.1002/pd.678
PMID
14558026
发布时间
2006-11-15
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Prenatal diagnosis
819-23页
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