منابع مشابه
I-49: Human Y Chromosome ProteomeProject
The success of the Human Genome Project (HGP) has provided a blueprint for the approximately 20,000 gene-encoded proteins potentially active in all of the hundreds of cell types that make up the human body. Yet we still have limited knowledge about a majority of the gene-encoded proteins which are the “building blocks of life” and “cellular machinery”. It is estimated that for nearly half of th...
متن کاملRare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.
49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation. Psychological, endocrinologic and orthopedic disorders constitute the major problems in the clinical follow-up. Sex chromosome abnormalities should especially be kept in mind ...
متن کاملPure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly
This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenome...
متن کاملThe Inheritance of a Structural Anomaly of One Chromosome No
Variations in the human karyotype have been found in association with a variety of congenital anomalies and also in the normal population (Miller and Mukherjee, 1962; Court Brown, 1967). Court Brown's population studies (1967) have revealed that between 2 and 3%o of the normal adult population has a karyotype with structural autosomal variations. Occasionally, homologous autosomes reveal differ...
متن کاملDe Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly
PURPOSE The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). MATERIALS AND METHODS We studied the karyotypes of 431 neonates with congenital anomalies ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: British Journal of Psychiatry
سال: 1987
ISSN: 0007-1250,1472-1465
DOI: 10.1192/s0007125000106208