this report presents the cytogenetic findings (g -banded chromosomal analysis} in 383 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. chromosomal aberrations were found in 63 116.5%) of these cases, free trisomy 21 (7%) being the most common abnormality , followed by 47, xxykaryotype (4%). the breakdown figures for each group is discussed in the text.

fibrous dysplasia (fd) is an osseous growth dis-order, producing immature bone and characte-rized by the replacement of normal bone with fibro-osseous connective tissue. it is a bone dys-plasia that has the potential to cause significant cosmetic and functional disturbances, particularly in the craniofacial skeleton. cra-niofacial fibrous dysplasia is one of the three types of polyostotic fibro...

background chromosomal aberrations are one of the most common causes of mental retardation (mr). objectives in this study, in order to identify the rate of chromosomal abnormalities in idiopathic mr, 50 mr patients at a charity center in hamadan, iran, were investigated. methods fifty mentally retarded male patients without specific chromosomal abnormalities (e.g., down syndrome, fragile x synd...

how to cite this article: shakiba m, nejad biglari h, alaee mr. digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome?iran j child neurol autumn 2012; 6(4): 51-54.   abstract several syndromes have been recognized with digital abnormality and cns involvement such as oculodentodigital dys...

background chromosomal abnormality plays an important role in different types of miscarriages. objectives the present study was designed to investigation chromosomal anomalies in three groups of couples with recurrent abortion (ra), spontaneous abortion (sa) and still birth (sb). patients and methods in this retrospective study, the frequency of chromosomal aberrations was investigated among 26...

A 77-year-old Iranian man was visited at the Dermatology Department of Loghman-e Hakim Hospital affiliated with Shahid Beheshti University of Medical Sciences on June 2012 with bilateral, symmetric, raised, violaceous and painless plaques on the nose (both ala nasi), from one year ago. The lesions were small at first and then grew gradually larger in size. Systemic symptoms such as fever, weigh...

A massive transfusion protocol (MTP) in which most non-RBC transfusions were laboratory result-driven was updated to a 1:1:1 RBC/plasma/platelet formula-driven protocol. Platelet count, fibrinogen level, and prothrombin time (PT) were monitored. In the patients who survived the first 12 hours, the results of coagulation tests were analyzed. Irrespective of the MTP or transfused RBC/plasma ratio...

This paper reviews our ability to predict survival and neurodevelopmental outcome in the newborn period. Traditionally, prognosis is based on individual risk factors or disease states. The laboratory plays an important role in diagnosing some of these. For example, prenatal and newborn screening are important in the diagnosis of chromosomal abnormalities and inborn errors of metabolism. Abnorma...