title: Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly.
abstract: We report on a baby with holoprosencephaly, median cleft lip, cardiac and genital anomalies, normal upper limbs, and a 46,XX karyotype. We also reviewed 22 karyotypically normal cases whose clinical features resembled trisomy 13 syndrome and compared them with the case we present. The problem of variable expression of the pseudotrisomy 13 syndrome versus genetic heterogeneity is illustrated.
authors.affiliation: Department of Medical Genetics, Hospital Virgen del Camino, Pamplona, Spain.
authors.forename: M A
authors.initials: MA
authors.lastname: Ramos-Arroyo
authors.forename: C
authors.initials: C
authors.lastname: de Miguel
authors.forename: A
authors.initials: A
authors.lastname: Valiente
authors.forename: S
authors.initials: S
authors.lastname: Moreno-Laguna
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D002971:Cleft Lip / Q000235:genetics; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017689:Polydactyly / Q000235:genetics; D013577:Syndrome; D014314:Trisomy