منابع مشابه
Mosaic hexasomy 21.
Cases in which there are more than three copies of a sex chromosome, and rarely of an autosome, have been reported, but to our knowledge hexasomy has never been described except in tissue undergoing neoplastic change. This report describes a female infant with multiple malformations in whom we found a mosaic hexasomy 21. This was first detected in amniotic fluid cells and subsequently in skin f...
متن کاملLipid peroxidation in Down syndrome caused by regular trisomy 21, trisomy 21 by Robertsonian translocation and mosaic trisomy 21.
BACKGROUND It has been suggested that an increase in oxidative stress in individuals with Down syndrome (DS) may cause adverse effects in the cell membranes through the oxidation of polyunsatured fatty acids. METHODS We examined erythrocyte malondialdehyde (MDA) levels in 100 individuals of both sexes (34 males and 66 females) with DS, aged from newborn to 29 years. The cytogenetic analysis r...
متن کاملTurner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...
متن کاملMosaic and partial monosomy of chromosome 21 in a case with low platelets count
Background Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions. Case report In this report, a 6 years old girl was presented who was referred to the Pediatric Dep, Shahid Sadoughi Ho...
متن کاملMosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.
The occurrence of mosaic Down's syndrome with two independent Robertsonian translocation cell lines is very rare. Such a patient is reported here, in whom an unbalanced Robertsonian translocation between two chromosomes 21 was detected in the majority of cells. The patient also revealed a minor cell line with a second Robertsonian translocation involving a chromosome 21 and a 22. The chromosome...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1984
ISSN: 1468-6244
DOI: 10.1136/jmg.21.3.228