Array comparative genomic hybridization characterization of multiple interstitial deletions involving 7p22.1, 7q11.23, 7q21.3-q22.1, 19p13.3-p12, and 19q13.11-q13.43 in a fetus associated with split hand-foot malformation. Role of EPS15L1 in pathogenesis
Journal
Taiwanese Journal of Obstetrics and Gynecology
Journal Volume
54
Journal Issue
4
Pages
455-458
Date Issued
2015
Author(s)
SDGs
Other Subjects
protein; protein eps15l1; unclassified drug; abortion; adult; Article; case report; chromosome 19p; chromosome 7p; comparative genomic hybridization; ectrodactyly; female; fetus; gene sequence; genetic association; gestational age; human; interstitial chromosome deletion; pathogenesis; patient counseling; phenotype; prognosis; second trimester pregnancy; amniocentesis; chromosome 7; chromosome deletion; comparative genomic hybridization; echography; fetus echography; genetics; limb malformation; pregnancy; procedures; rare disease; therapeutic abortion; Abortion, Therapeutic; Amniocentesis; Chromosome Deletion; Chromosomes, Human, Pair 7; Comparative Genomic Hybridization; Female; Humans; Limb Deformities, Congenital; Pregnancy; Pregnancy Trimester, Second; Rare Diseases; Ultrasonography, Prenatal
Publisher
Elsevier Ltd
Type
journal article