RESUMEN
We present a 9 month-old baby girl with de novo pure interstitial duplication 1q. The girl has dysmorphic craniofacial features as well as neuromotor retardation, multiple subcutaneous solid tissue lesions, urogenital anomalies, cardiac defect, liver parenchyma heterogeneity and intracranial anomaly. The case of de novo duplication of 1q32q42 defined by G-banding and Microarray Comparative Genomic Hybridization (Microarray CGH) was presented with its clinical findings.
Asunto(s)
Anomalías Múltiples/genética , Duplicación Cromosómica/genética , Cromosomas Humanos Par 1/genética , Discapacidades del Desarrollo/genética , Bandeo Cromosómico , Hibridación Genómica Comparativa , Femenino , Humanos , LactanteRESUMEN
Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of appendicular skeleton. Furthermore it is related to axial skeleton and leads to wedging of vertebral bodies, with shorter dorsal margins than the ventral margins. Bartels et al. defined mutations in NPR2 gene, encoding natriuretic peptide receptor B (NPR-B), underlying Acromesomelic dysplasia, type Maroteaux. We present here molecular and clinical findings of a case with AMDM. In a patient, a novel homozygous mutation c.1435C>T p.R479X in exon 7 of NPR2 gene was found. Further testing confirmed the heterozygous carrier status of the parents. Our findings expand the spectrum of causative mutations in AMDM.
Asunto(s)
Enfermedades del Desarrollo Óseo/genética , Proteína C-Reactiva/genética , Proteínas del Tejido Nervioso/genética , Adolescente , Enfermedades del Desarrollo Óseo/patología , Consanguinidad , Femenino , Humanos , MutaciónAsunto(s)
Ataxia/genética , Flavoproteínas Transportadoras de Electrones/genética , Proteínas Hierro-Azufre/genética , Enfermedades Mitocondriales/genética , Debilidad Muscular/genética , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Ubiquinona/deficiencia , Adulto , Humanos , Masculino , Mutación , Ubiquinona/genética , Adulto JovenAsunto(s)
Síndrome de Turner/genética , Adulto , Femenino , Humanos , Cariotipo , Mosaicismo , Síndrome de Turner/patología , Adulto JovenRESUMEN
We present a case of de novo distal partial trisomy 4q with firstly described chronic cholecystitis, rarely seen hypothyroidism, and bilateral membranous choanal atresia. The patient, a 10-month-old baby girl had dysmorphic facial features as well as neuromotor retardation, congenital hypothyroidism, atrial septal defect (ASD), white matter atrophy in cranial MRI, grade 2 dilatation in pelvicalyceal system of the left kidney, and bilateral ureteral reflux. In peripheral blood chromosome analysis 46, XX, dup(4) (q21q35) karyotype was detected. In FISH analysis using 4p/4q subtelomeric probe; 3 signals for 4 q region and 2 signals for 4p region were observed. In chromosome analyses of her healthy parents, no anomaly was detected. Herein we present a case of de novo partial distal trisomy 4q syndrome to contribute to the literature since it is rarely seen and this is the first patient with partial trisomy distal 4q syndrome presented with chronic cholecystitis and the second patient with hypothyroidism.
