title: Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.
abstract: Constitutional partial trisomy 11q in man mostly occurs in combination with partial trisomy 22 due to a balanced parental translocation t(11;22). Occasionally a chromosome other than 22 is involved in the parental translocation with chromosome 11, resulting in partial monosomy for the other participating chromosome. We report of a patient with partial trisomy 11q and partial monosomy 10p [46,XX,der(10)t(10;11)(p15;q22)] due to a paternal balanced translocation [46,XY,t(10;11)(p15;q22)]. Array CGH showed heterozygosity for a deletion of ∼3.46 Mb at 10p15.3p15.2 and gain of ∼32.21 Mb at 11q22.2q25. The patient, a 19-year-old woman, has a multiple congenital anomaly syndrome with severe developmental and growth delay, muscular hypotonia, iris coloboma, abnormal external ears, widely spaced nipples, atrial septum defect, clubfoot, and arthrogryposis multiplex congenita. Despite multiple health problems and numerous hospitalizations due to massive seizures, pulmonary insufficiency and recurrent infections the patient reached adulthood. The clinical features in our patient are compared to other cases reported in the literature of either partial monosomy 10p or partial trisomy 11q. To the best of our knowledge, this is the first report of the combination of partial trisomy 11q and partial monosomy 10p. Comparing the molecular karyotype and the phenotype of our patient to other patients, the clinical features of our patient are more likely due to partial trisomy 11q than to partial monosomy 10p.
authors: Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany. anja.hagen@medizin.uni-leipzig.de
authors: Anja
authors: A
authors: Hagen
authors: Arndt
authors: A
authors: Bigl
authors: Dorothea
authors: D
authors: Wand
authors: Eva
authors: E
authors: Klopocki
authors: Raoul
authors: R
authors: Heller
authors: Manuela
authors: M
authors: Siekmeyer
authors: Werner
authors: W
authors: Siekmeyer
authors: Wieland
authors: W
authors: Kiess
authors: Andreas
authors: A
authors: Merkenschlager
mesh_terms: D059786:Abnormal Karyotype; D000328:Adult; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D005838:Genotype; D006801:Humans; D010641:Phenotype; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult