title: Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1).
abstract: We report on a 5-year-old girl with multiple congenital anomalies, developmental delay, and a de novo unbalanced translocation between chromosomes X and 1[46,X,der(X)-t(X;1)(q24;q31.1)] resulting in partial trisomy 1q and partial monosomy Xq. The karyotype shows inactivation of the abnormal X chromosome. The translocated portion of 1q remains active in the tissues studied. This is the third case report with partial trisomy 1q and partial monosomy Xq. However, it is the first with specific breakpoints at 1q31.1 and Xq24.
authors.affiliation: F. Clarke Clinical Genetics Unit, Division of Medical Genetics, Montreal Children's Hospital, Montreal, QC, Canada.
authors.forename: K A
authors.initials: KA
authors.lastname: Collins
authors.forename: P
authors.initials: P
authors.lastname: Eydoux
authors.forename: A M
authors.initials: AM
authors.lastname: Duncan
authors.forename: J
authors.initials: J
authors.lastname: Ortenberg
authors.forename: K
authors.initials: K
authors.lastname: Silver
authors.forename: V M
authors.initials: VM
authors.lastname: Der Kaloustian
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy; D014960:X Chromosome