De novo inverted duplication of chromosome 7q
نویسندگان
چکیده
منابع مشابه
De novo inverted duplication of chromosome 7(q21.3-->q35): cytogenetic diagnosis confirmed by FISH analysis.
We report on a newborn female patient with a de novo pure partial duplication of 7q. The clinical features are compared with those of 19 cases from the literature with pure partial duplication of different segments of 7q. Conventional cytogenetic investigation led to the diagnosis of duplication of bands q21.3 to q35. This was confirmed by chromosome painting and by fluorescence in situ hybridi...
متن کاملA lethal presentation of de novo deletion 7q.
Deletion of 7q32----qter is a well defined syndrome which usually arises de novo. The proband we report was the result of an uncomplicated 36 week first pregnancy of non-consanguineous Oriental parents. The male infant died shortly after birth. Chromosome studies of peripheral blood and umbilical cord revealed 46,XY,del(7), apparently (q32----qter). The parents' karyotypes were normal. The obse...
متن کاملA case of de novo duplication of 15q24-q26.3
Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some ca...
متن کاملProcesses of de novo duplication of human -globin genes
Ectopic recombination between repeated but nonallelic DNA sequences plays a major role in genome evolution, creating gene families and generating copy number variation and pathological rearrangements in human chromosomes. Previous studies on the 2and 1-globin genes have shown that de novo deletions common in -thalassemics can be directly accessed in human DNA and provide an informative system f...
متن کاملA de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report
The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...
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: Journal of Medical Genetics
سال: 1992
ISSN: 1468-6244
DOI: 10.1136/jmg.29.11.837