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Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities.

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第一作者： Themistoklis,Dagklis

第一单位： 3rd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Hippokration Hospital, Thessaloniki, Greece ; Embryomitriki, Prenatal Diagnostic Center, Thessaloniki, Greece.

作者： Themistoklis,Dagklis ^[1] ; Elena,Papageorgiou ^[2] ; Elisavet,Siomou ^[2] ; Vassilis,Paspaliaris ^[2] ; Christina,Zerva ^[3] ; Panagiotis,Chatzis ^[4] ; Loretta,Thomaidis ^[5] ; Emmanouil,Manolakos ^[6] ; Ioannis,Papoulidis ^[7]

作者单位： 3rd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Hippokration Hospital, Thessaloniki, Greece ; Embryomitriki, Prenatal Diagnostic Center, Thessaloniki, Greece. ^[1] Access To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece ; Access To Genome - ATG P.C, Clinical Laboratory Genetics, 8 Sisini str, 11528 Athens, Greece. ^[2] Embryomitriki, Prenatal Diagnostic Center, Thessaloniki, Greece. ^[3] 2nd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Hippokration Hospital, Thessaloniki, Greece. ^[4] Developmental assessment unit, 2nd department of pediatrics, P. & A. Kyriakou children's hospital, School of medicine, National and Kapodistrian University of Athens, Athens, Greece. ^[5] Access To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece ; Access To Genome - ATG P.C, Clinical Laboratory Genetics, 8 Sisini str, 11528 Athens, Greece ; Developmental assessment unit, 2nd department of pediatrics, P. & A. Kyriakou children's hospital, School of medicine, National and Kapodistrian University of Athens, Athens, Greece ; Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari, Italy. ^[6] Access To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece. ^[7]

关键词 Array-based Comparative Genomic Hybridization array (a-CGH)Chromosome 1 Genotype-phenotype correlation Microdeletions Prenatal diagnosis

DOI 10.1186/s13039-016-0288-y

PMID 27713767

发布时间 2020-10-01

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