First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.

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作者： Fatma,Abdelhedi ^[1] ; Johanna,Corcos ; Laurence,Cuisset ; Vassilis,Tsatsaris ; Julia,Tantau ; Dominique,Le Tessier ; Aziza,Lebbar ; Jean-Michel,Dupont

作者单位： Groupe Hospitalier Cochin, Broca, Hôtel Dieu, APHP-Laboratoire de Cytogénétique, Paris, France. abdelhedi_f@yahoo.fr ^[1]

主题词成年人(Adult);染色体缺失(Chromosome Deletion);染色体, 人, 15对(Chromosomes, Human, Pair 15);比较基因组杂交(Comparative Genomic Hybridization);致命性结局(Fatal Outcome);女(雌)性(Female);股骨(Femur);人类(Humans);原位杂交, 荧光(In Situ Hybridization, Fluorescence);妊娠(Pregnancy);产前诊断(Prenatal Diagnosis)

DOI 10.1002/ajmg.a.34416

PMID 22302515

发布时间 2020-09-30

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American journal of medical genetics. Part A

2012年158A卷3期

617-21页

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First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.

American journal of medical genetics. Part A

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American journal of medical genetics. Part A

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First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

检索历史清除