Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). 2004

U Moog, and J J Engelen, and B W Weber, and M Van Gelderen, and J Steyaert, and F Baas, and H M Sijstermans, and J P Fryns
Department of Clinical Genetics, Research Institute Growth & Development (GROW), Maastricht University, Maastricht, The Netherlands. ute.moog@gen.unimaas.nl

We present a 6-year-old boy with moderate developmental delay, gait disturbance, autism related disorder and mild dysmorphic features. He was seen for evaluation of his retardation since the age of 2.8 years. At first sight, a cytogenetic analysis showed a normal 46,XY karyotype. Neurological examination at the age of 5.5 years revealed a motor and sensory polyneuropathy. A quantitative Southern blot with probes PMP22 and VAW409 specific for Charcot-Marie-Tooth type 1 (CMT1) disclosed a duplication which confirmed the diagnosis HMSN Ia. Subsequently, GTG banded metaphases were re-evaluated and a small duplication 17p was seen on retrospect. Additional FISH with probe LSISMS (Vysis) specific for the Smith-Magenis region at 17p11.2 again showed a duplication. Both parents had a normal karyotype and the duplication test for CMT1 showed normal results for both of them. The boy had a de novo 46,XY,dup(17)(p11.2p12) karyotype. The present observation confirms previous findings of mild psychomotor delay, neurobehavioural features and minor craniofacial anomalies as the major phenotypic features of dup(17)(p11.2) and dup(17)(p11.2p12); in cases of duplications comprising the PMP22 locus HMSN1 is associated. A recognizable facial phenotype emerges characterized by a broad forehead, hypertelorism, downslant of palpebral fissures, smooth philtrum, thin upper lip and ear anomalies.

UI MeSH Term Description Entries
D008297 Male Males
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002880 Chromosomes, Human, Pair 11 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 11
D002886 Chromosomes, Human, Pair 17 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 17
D003582 Cytogenetics A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE. Cytogenetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001321 Autistic Disorder A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V) Autism, Infantile,Kanner's Syndrome,Autism,Autism, Early Infantile,Disorder, Autistic,Disorders, Autistic,Early Infantile Autism,Infantile Autism,Infantile Autism, Early,Kanner Syndrome,Kanners Syndrome
D015417 Hereditary Sensory and Motor Neuropathy A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) Dejerine-Sottas Disease,HMSN,HMSN Type III,HMSN Type VII,Hereditary Motor and Sensory Neuropathies,Hereditary, Type III, Motor and Sensory Neuropathy,Hereditary, Type VII, Motor and Sensory Neuropathy,Neuropathies, Hereditary Motor and Sensory,CMT4f,Charcot-Marie-Tooth Disease, Demyelinating, Type 4f,Charcot-Marie-Tooth Disease, Type 3,Dejerine-Sottas Neuropathy,Dejerine-Sottas Syndrome,HMSN3,Herditary Sensory and Motor Neuropathy,Hereditary Motor and Sensory Neuropathy,Hereditary Motor and Sensory Neuropathy 3,Hereditary Motor and Sensory Neuropathy Type III,Hypertrophic Neuropathy of Dejerine-Sottas,Charcot Marie Tooth Disease, Type 3,Dejerine Sottas Disease,Dejerine Sottas Neuropathy,Dejerine Sottas Syndrome,Dejerine-Sottas Hypertrophic Neuropathy,Disease, Dejerine-Sottas,HMSN Type IIIs,HMSN Type VIIs,Hypertrophic Neuropathy of Dejerine Sottas,Neuropathy, Dejerine-Sottas,Syndrome, Dejerine-Sottas,Type VII, HMSN
D020440 Gene Duplication Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES. Duplication, Gene,Duplications, Gene,Gene Duplications

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