OBJECTIVE: To improve the phenotype-genotype correlation in terminal 15q deletions and ring chromosome 15 syndrome. METHODS: Echographic examination of fetus. R-banded chromosome and FISH analysis on cultured amniocytes. Microsatellite analysis to determine parental origin of the ring chromosome 15. Fetal autopsy. RESULTS: We report a new case of prenatal diagnosis of congenital diaphragmatic hernia and intrauterine growth retardation in a fetus with ring chromosome 15 involving 15q26.1-qter deletion. CONCLUSION: This case support the evidence that the region 15q26.3 is implicated in intrauterine growth retardation and suggests that the 15q critical region implicated in congenital diaphragmatic hernia is localized in 15q26.1-q26.2.
OBJECTIVE: To improve the phenotype-genotype correlation in terminal 15q deletions and ring chromosome 15 syndrome. METHODS: Echographic examination of fetus. R-banded chromosome and FISH analysis on cultured amniocytes. Microsatellite analysis to determine parental origin of the ring chromosome 15. Fetal autopsy. RESULTS: We report a new case of prenatal diagnosis of congenital diaphragmatic hernia and intrauterine growth retardation in a fetus with ring chromosome 15 involving 15q26.1-qter deletion. CONCLUSION: This case support the evidence that the region 15q26.3 is implicated in intrauterine growth retardation and suggests that the 15q critical region implicated in congenital diaphragmatic hernia is localized in 15q26.1-q26.2.
Authors: César Paz-Y-Miño; Jaime Guevara-Aguirre; Ariane Paz-Y-Miño; Francesca Velarde; Isaac Armendáriz-Castillo; Verónica Yumiceba; Jesús María Hernández; Juan Luis García; Paola E Leone Journal: J Med Case Rep Date: 2018-11-16
Authors: Rossella Cannarella; Teresa Mattina; Rosita A Condorelli; Laura M Mongioì; Giuseppe Pandini; Sandro La Vignera; Aldo E Calogero Journal: Endocr Connect Date: 2017-10 Impact factor: 3.335