Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring

• Published in: Clinical dysmorphology Vol. 21; no. 1; p. 27
• Main Authors: Melis, Daniela, Genesio, Rita, Del Giudice, Ennio, Taurisano, Roberta, Mormile, Angela, D'Elia, Federica, Conti, Anna, Imperati, Floriana, Andria, Generoso, Nitsch, Lucio
• Format: Journal Article
• Language: English
• Published: England 01.01.2012
• Subjects: Adolescent; Body Height - genetics; Body Height - physiology; Chromosomes, Human, Pair 19 - genetics; Cognitive Dysfunction - genetics; Cytogenetic Analysis; Female; Genetic Markers; Humans; Karyotype; Phenotype; Ring Chromosomes
• ISSN: 1473-5717
• DOI: 10.1097/MCD.0b013e328348d860

Small supernumerary marker chromosomes (sSMC) occur with a frequency of approximately 0.4 per 1000 newborns and are more frequent in the population with mental retardation and/or with dysmorphic signs. Small supernumerary chromosome rings (sSCR) usually occur as apart of a mosaic karyotype (Liehr et al., 2004). Chromosome 19 supernumerary rings are very rare. Almost all cases of sSMC19 have been reported on Thomas Liehr's website (http://www.med.uni-jena.de/fish/sSMC/19.htm#Start19). Of these cases, 14 were with phenotypic abnormalities and a clear characterization of the sSMC; two cases were suitable for comparison with our case with regard to their genetic content, but not with regard to the structure ofthe sSMC (Manvelyan et al., 2008). The phenotype, associated with partial trisomy 19q, includes facial dysmorphism, growth and mental retardation, macrocephaly, heart malformation and anomalies of the genitourinary and gastrointestinal tracts. The phenotype associated with partial trisomy 19p is characterized by dysmorphic features, severe mental retardation, abnormalities of brain morphology and anomalies of the fingers (Tercanli et al., 2000; Qorri et al., 2002; Novelli et al., 2005; Vraneković et al., 2008). Herein, we report the phenotype and molecular cytogenetic analysis in a patient with the smallest de-novo constitutional ring extended from the p12 to q12 region of chromosome 19.