A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings

American Journal of Medical Genetics

Volumn 127 A, Issue 1, 2004, Pages 69-73

  Mori, María A ^a   Lapunzina, Pablo ^a   Delicado, Alicia ^a   Núñez, Guillermo ^a   Rodríguez, José I ^a   De Torres, María L ^a   Herrero, Francisco ^a   Valverde, Eva ^a   López Pajares, Isidora ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Congenital heart disease; FISH; Full monosomy 21; Holopresencephaly; IUGR; Microcephaly; Microphthalmia; Microsatellite analysis; Multiple congenital anomalies; Prenatal diagnosis

Indexed keywords

DNA;

ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME 21; CONGENITAL HEART DISEASE; CYTOGENETICS; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GESTATIONAL AGE; HOLOPROSENCEPHALY; HUMAN; INTRAUTERINE GROWTH RETARDATION; KIDNEY AGENESIS; MALE; MICROCEPHALY; MICROPHTHALMIA; MONOSOMY; MONOSOMY 21; MULTIPLE MALFORMATION SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 3142706476     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20622     Document Type: Article

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