AIMS: To report on the clinical and metabolic characteristic and the unique chromosomal defect of a mentally retarded and morbidly obese patient. METHODS: A 13-year follow-up, including insulin sensitivity, lipid profile and polysomnography studies and various therapeutic interventions are described. The presence of a supernumerary marker in karyotype preparation was further studied by fluorescence in situ hybridization (FISH). Comparative genomic hybridization (CGH) was used to identify the source of the chromosomal marker. RESULTS: Insulin resistance was found by the homeostatic model assessment (HOMA) and the quantitative insulin sensitivity check index (QUICKI). M-FISH identified euchromatin derived from chromosome 19, and CGH confirmed the FISH results and demonstrated that the supernumerary marker derived from 19q12 to 19q13.2. CONCLUSION: The clinical and metabolic characteristics in association with partial chromosomal trisomy differ our patient from the currently known syndromes of obesity and mental retardation. The metabolic impairments in this case can derive from unbalanced expression of several genes in the 19q12-19q13.2 region, genes that are related to adipose tissue homeostasis and insulin resistance. The clinical and genetic similarities to a previously reported case may suggest that partial 19q trisomy is a new syndrome of obesity and mental retardation.
AIMS: To report on the clinical and metabolic characteristic and the unique chromosomal defect of a mentally retarded and morbidly obesepatient. METHODS: A 13-year follow-up, including insulin sensitivity, lipid profile and polysomnography studies and various therapeutic interventions are described. The presence of a supernumerary marker in karyotype preparation was further studied by fluorescence in situ hybridization (FISH). Comparative genomic hybridization (CGH) was used to identify the source of the chromosomal marker. RESULTS:Insulin resistance was found by the homeostatic model assessment (HOMA) and the quantitative insulin sensitivity check index (QUICKI). M-FISH identified euchromatin derived from chromosome 19, and CGH confirmed the FISH results and demonstrated that the supernumerary marker derived from 19q12 to 19q13.2. CONCLUSION: The clinical and metabolic characteristics in association with partial chromosomal trisomy differ our patient from the currently known syndromes of obesity and mental retardation. The metabolic impairments in this case can derive from unbalanced expression of several genes in the 19q12-19q13.2 region, genes that are related to adipose tissue homeostasis and insulin resistance. The clinical and genetic similarities to a previously reported case may suggest that partial 19q trisomy is a new syndrome of obesity and mental retardation.
Authors: Julián Nevado; Jill A Rosenfeld; Rocío Mena; María Palomares-Bralo; Elena Vallespín; María Ángeles Mori; Jair A Tenorio; Karen W Gripp; Elizabeth Denenberg; Miguel Del Campo; Alberto Plaja; Rubén Martín-Arenas; Fernando Santos-Simarro; Lluis Armengol; Gordon Gowans; María Orera; M Carmen Sanchez-Hombre; Esther Corbacho-Fernández; Alberto Fernández-Jaén; Chad Haldeman-Englert; Sulagna Saitta; Holly Dubbs; Duban B Bénédicte; Xia Li; Lani Devaney; Mary Beth Dinulos; Stephanie Vallee; M Carmen Crespo; Blanca Fernández; Victoria E Fernández-Montaño; Inmaculada Rueda-Arenas; María Luisa de Torres; Jay W Ellison; Salmo Raskin; Carlos A Venegas-Vega; Fernando Fernández-Ramírez; Alicia Delicado; Sixto García-Miñaúr; Pablo Lapunzina Journal: Eur J Hum Genet Date: 2015-04-08 Impact factor: 4.246