title: Heterogeneous Diagnoses Underlying Radial Ray Anomalies.
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.
authors.affiliation: 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.
authors.forename: Rosalba
authors.initials: R
authors.lastname: Sevilla-Montoya
authors.affiliation: 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.
authors.forename: Mónica
authors.initials: M
authors.lastname: Aguinaga
authors.affiliation: 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.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Martínez
authors.affiliation: 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.
authors.forename: Guadalupe
authors.initials: G
authors.lastname: Razo
authors.affiliation: 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.
authors.forename: Bertha
authors.initials: B
authors.lastname: Molina
authors.affiliation: 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.
authors.forename: Sara
authors.initials: S
authors.lastname: Frías
authors.affiliation: 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.
authors.forename: Patricia
authors.initials: P
authors.lastname: Grether
mesh_terms: D000015:Abnormalities, Multiple / Q000401:mortality; D005199:Fanconi Anemia / Q000401:mortality; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008800:Mexico / Q000453:epidemiology; D011296:Prenatal Diagnosis; D011884:Radius / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities*; D014457:Ulna / Q000002:abnormalities*; D038062:Upper Extremity Deformities, Congenital / Q000235:genetics* / Q000401:mortality
keywords: Fanconi anemia; Perinatal mortality; Radial ray