title: Two cases of partial trisomy 4p and partial trisomy 14q.
abstract: We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.
authors.affiliation: Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea.
authors.forename: Yeo-Hyang
authors.initials: YH
authors.lastname: Kim
authors.forename: Heung-Sik
authors.initials: HS
authors.lastname: Kim
authors.forename: Nam-Hee
authors.initials: NH
authors.lastname: Ryoo
authors.forename: Jung-Sook
authors.initials: JS
authors.lastname: Ha
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007621:Karyotyping; D014178:Translocation, Genetic; D014314:Trisomy
keywords: Translocation (4;14); Trisomy 4p; Ttrisomy 14q