Rosalba Sevilla-Montoya1, Mónica Aguinaga2, Alejandro Martínez2, Guadalupe Razo2, Bertha Molina3, Sara Frías3, Patricia Grether2. 1. Departamento de Genética, Instituto Nacional de Perinatología, Montes Urales 800 Col. Lomas Virreyes, C.P 11000, Torre de investigación 2°, Piso, Ciudad de México, CP 11000, Mexico. rosalbasevilla@hotmail.com. 2. Departamento de Genética, Instituto Nacional de Perinatología, Montes Urales 800 Col. Lomas Virreyes, C.P 11000, Torre de investigación 2°, Piso, Ciudad de México, CP 11000, Mexico. 3. Laboratorio de Citogenética, Instituto Nacional de Pediatría/Instituto de Investigaciones Biomédicas UNAM, Insurgentes Sur 3700, Letra C, Col. Insurgentes Cuicuilco, CP 4530, Ciudad de México, Mexico.
Abstract
OBJECTIVE: To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients. METHODS: All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal. RESULTS: Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy. Five were stillborn and two died during the early neonatal period; all of whom presented with multiple defects. Three of the live born patients and one stillborn with multiple defects had Fanconi anemia. RRAs carry a high perinatal mortality rate (47%) when they occur in association with other defects. CONCLUSIONS: The assessment of these patients needs to involve the combined use of ultrasound, clinical, genetic, cytogenetic and molecular testing. The present results indicate that the chromosome breakage test should always be performed to rule out Fanconi anemia in this group.
OBJECTIVE: To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients. METHODS: All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal. RESULTS: Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy. Five were stillborn and two died during the early neonatal period; all of whom presented with multiple defects. Three of the live born patients and one stillborn with multiple defects had Fanconi anemia. RRAs carry a high perinatal mortality rate (47%) when they occur in association with other defects. CONCLUSIONS: The assessment of these patients needs to involve the combined use of ultrasound, clinical, genetic, cytogenetic and molecular testing. The present results indicate that the chromosome breakage test should always be performed to rule out Fanconi anemia in this group.
Entities:
Keywords:
Fanconi anemia; Perinatal mortality; Radial ray
Authors: Annalisa Vetro; Maria Iascone; Ivan Limongelli; Najim Ameziane; Simone Gana; Erika Della Mina; Ursula Giussani; Roberto Ciccone; Antonella Forlino; Laura Pezzoli; Martin A Rooimans; Antoni J van Essen; Jole Messa; Tommaso Rizzuti; Paolo Bianchi; Josephine Dorsman; Johan P de Winter; Faustina Lalatta; Orsetta Zuffardi Journal: Hum Mutat Date: 2015-04-07 Impact factor: 4.878