Two Robertsonian translocations in a boy with mental retardation

Two Robertsonian translocations in a boy with mental retardation.

Robertsonian Translocations: An Overview of 872 Robertsonian Translocations Identified in a Diagnostic Laboratory in China

Robertsonian translocations (ROBs) have an estimated incidence rate of 1/1000 births, making this type of rearrangement the most common structural chromosomal abnormalities seen in the general population. In this study, we reports 872 cases of ROBs from 205,001 specimens karyotyped postnatally in a single accredited laboratory in China, including 583 balanced ROBs, 264 unbalanced ROBs, 9 mosaic...

A survey of patients with mental retardation of unknown origin

Introduction: Fragile X syndrome (FXS) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit. The present study was undertaken to investigate FXS and its prevalence in moderate mentally retarded people in patients. Materials and methods: Nineteen people with moderate mental retardation (MR) who wer...

Two reciprocal translocations associated with microcephaly and retardation.

The first case is reported of a karyotype containing two apparently unrelated reciprocal translocations, involving chromosomes 1, 2, 5, and 7. It is suggested that the patient's psychomotor retardation and microcephaly may be the result of the loss of a small amount of chromosomal material accompanying these translocations.

Health-related Physical Fitness in Children with Mental Retardation

Human health is highly dependent on the condition of health-related physical fitness and particularly body composition. Adolescence is unique in this regard, especially when the adolescents are mentally retarded, about whom information on physical fitness is limited. Thus, the objective of this paper was to study the components of health-related physical fitness with emphasis on body composit...