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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1995-6-27
|
| pubmed:abstractText |
We report cytogenetic and molecular investigations performed in two cases of mosaic trisomy 8 combined with mosaic sex chromosome aneuploidy. In a 35-year-old female, presenting with short stature, gonadal dysgenesis, and a multiple congenital anomalies/mental retardation syndrome typical of trisomy 8, chromosome analysis from peripheral lymphocytes showed the presence of three cell lines, whose karyotypes were 45,X (59.2%), 46,X,+8 (1.2%), and 47,XX,+8 (39.6%), respectively. The same cell lines were found in a skin fibroblast culture, though in different proportions. The second patient, a 9-month-old male with multiple skeletal abnormalities, showed a 47,XY,+8 and a 47,XXY cell line in both peripheral lymphocytes (61.7% and 38.3%, respectively) and skin fibroblasts (92.8% and 7.2%, respectively). To determine the events underlying the origin of these complex karyotypes we performed Southern blot and polymerase chain reaction (PCR) analysis using polymorphic DNA markers from the X chromosome and from chromosome 8. Both supernumerary chromosomes 8, and, in case 2, the two X chromosomes, appeared to be identical, lacking detectable recombination events. We conclude that, in both cases, the most likely mechanism underlying the origin of the mosaic cell lines was formation of a normal zygote, followed by mitotic errors during early divisions.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
95
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
519-25
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:7759072-Abnormalities, Multiple,
pubmed-meshheading:7759072-Adult,
pubmed-meshheading:7759072-Aneuploidy,
pubmed-meshheading:7759072-Bone and Bones,
pubmed-meshheading:7759072-Chromosomes, Human, Pair 8,
pubmed-meshheading:7759072-Female,
pubmed-meshheading:7759072-Gonadal Dysgenesis,
pubmed-meshheading:7759072-Humans,
pubmed-meshheading:7759072-Infant,
pubmed-meshheading:7759072-Intellectual Disability,
pubmed-meshheading:7759072-Male,
pubmed-meshheading:7759072-Mosaicism,
pubmed-meshheading:7759072-Pedigree,
pubmed-meshheading:7759072-Polymerase Chain Reaction,
pubmed-meshheading:7759072-Sex Chromosome Aberrations,
pubmed-meshheading:7759072-Trisomy,
pubmed-meshheading:7759072-X Chromosome,
pubmed-meshheading:7759072-Y Chromosome
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8.
|
| pubmed:affiliation |
Servizio Speciale di Citogenetica, Facoltà di Medicina e Chirurgia, Università Federico II, Napoli, Italy.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|