Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring Daniela Melis a , Rita Genesio b , Ennio Del Giudice a , Roberta Taurisano a , Angela Mormile b , Federica D’Elia a , Anna Conti b , Floriana Imperati a , Generoso Andria a and Lucio Nitsch b Clinical Dysmorphology 2012, 21:27–32 a Departments of Pediatrics and b Cellular and Molecular Biology and Pathology, ‘Federico II’ University, Naples, Italy Correspondence to Daniela Melis, MD, PhD, Department of Pediatrics, ‘Federico II’ University, Naples, Italy Tel: +39 0817462673; fax: +39 0817463116; e-mail: danlis@tin.it Received 18 July 2009 Accepted 5 May 2011 List of key features Tall stature Camptodactyly Mental retardation Cerebellar hypoplasia Introduction 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 super- numerary chromosome rings (sSCR) usually occur as a part of a mosaic karyotype (Liehr et al., 2004). Chromo- some 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 of the sSMC (Manvelyan et al., 2008). The phenotype, associated with partial trisomy 19q, includes facial dysmorphism, growth and mental retardation, macroce- phaly, heart malformation and anomalies of the genitour- inary and gastrointestinal tracts. The phenotype associated with partial trisomy 19p is characterized by dysmorphic features, severe mental retardation, abnorm- alities of brain morphology and anomalies of the fingers (Tercanli et al., 2000; Qorri et al., 2002; Novelli et al., 2005; Vranekovic ´ et al., 2008). Herein, we report the phenotype and molecular cytoge- netic analysis in a patient with the smallest de-novo constitutional ring extended from the p12 to q12 region of chromosome 19. Materials and methods Clinical report The patient, a 15-year-old female, was the first child of unrelated and healthy parents. She was born at full-term after a normal pregnancy. The neonatal period was uneventful. During childhood, developmental delay, particularly of language skills, was noted. She acquired single words at the age of 20 months, two-word sentences at the age of 3 1 = 2 years and complete phrases (use of verbs, pronouns, etc) at the age of 5 years. On clinical examination, at 15 years, she was noted to have tall stature (height = 181.5 cm, > 95th centile), which was not consistent with the height, predicted by family measurements, weight, dysmorphic features (high forehead, down-slanting palpebral fissures, wide diastema between upper incisors, high palate, short fraenulum of the upper lip, prominent lips) and skeletal involvement (scoliosis, long and tapering fingers, fifth finger campo- dactyly, hallux valgus, fifth toe clinodactyly, pes planus) (Fig. 1a and b). A transverse palmar crease was also observed. Neurological examination revealed a normal gait: heel- walking, toe-walking as well as tandem walking were possible without difficulty. Cerebellar function tests were within normal limits. Muscle strength and tone were normal. Deep tendon reflexes were very brisk, particularly the knee jerk. No pyramidal tract signs were evident. A detailed neuropsychological assessment was made. Global intellectual functioning evaluated by means of the Wechsler Intelligence Scale for Children (third edition). was in the borderline range with a significant discrepancy (P < 0.01) between verbal intelligence quo- tient (IQ) (54) and performance IQ (85). This dis- crepancy was related to a severe defect in processing verbal information: phonological and semantic fluency were particularly impaired. Likewise, the communication domain scores with the Vineland Adaptive Behaviour Scales were low (mental age = 12 years) as compared with the Socialization and Daily Living Skills. In addition, nonverbal intelligence with the Raven’s Progressive Matrices was well within normal limits. Memory and attention also showed no detectable deficits. An academic Short case report 27 0962-8827  c 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins DOI: 10.1097/MCD.0b013e328348d860 Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.