title: A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings.
abstract: We report on a patient with a full monosomy 21 (FM21) prenatally diagnosed in cord fetal blood, and subsequently confirmed in other tissues. Subtle chromosomal translocations of chromosome 21, were ruled-out by FISH using both painting and 21q telomeric probes. Microsatellites analysis demonstrated the paternal origin of the single chromosome. The propositus showed at 32 weeks of gestation a severe intrauterine growth retardation and microcephaly. He was born with multiple congenital malformations, hypotonia, microcephaly, bilateral microphthalmia (more severe on the left), facial dysmorphism, agenesis of the external auditory meatus, redundant skin in the neck, narrow chest, flat scrotum, cryptorchydism, hypospadias, micropene, camptodactyly, nail hypoplasia, and abnormal palmar and plantar creases. The patient died in the first day of life. At necropsy, micrencephaly, semilobar holoprosencephaly, polimicrogyria, ocular abnormalities, skeletal anomalies, congenital heart disease, and agenesis of right kidney were also observed. To our best knowledge, this case is one of the most completely patient studied with FM21.
authors.affiliation: Department of Genetics, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: María A
authors.initials: MA
authors.lastname: Mori
authors.affiliation: Department of Genetics, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
authors.affiliation: Department of Genetics, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Alicia
authors.initials: A
authors.lastname: Delicado
authors.affiliation: Department of Pathology, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Núñez
authors.affiliation: Department of Pathology, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: José I
authors.initials: JI
authors.lastname: Rodríguez
authors.affiliation: Department of Genetics, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: María L
authors.initials: ML
authors.lastname: de Torres
authors.affiliation: Department of Obstetrics, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Herrero
authors.affiliation: Department of Neonatology, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Eva
authors.initials: E
authors.lastname: Valverde
authors.affiliation: Department of Genetics, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: Isidora
authors.initials: I
authors.lastname: López-Pajares
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005145:Face / Q000002:abnormalities; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D008445:Maxillofacial Development / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics; D009006:Monosomy / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D032681:Spectral Karyotyping; D016216:Ultrasonography, Prenatal