## Abstract Familial mosaicism has rarely been reported either for autosomes or sex chromosomes. Its recognition poses problems in prognosis, especially in prenatal diagnosis. Three generations of females showed sex chromosomal mosaicism with 3–4 cell lines, the diploid predominant. Phenotypic effe
Familial ring (20) chromosomal mosaicism
✍ Scribed by E. Back; I. Voiculescu; M. Brünger; G. Wolff
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 734 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0340-6717
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Ring (19) chromosomal mosaicism has been identified in a 14-month-old girl referred for cytogenetic evaluation due to microcephaly and developmental delay with autistic-like mannerisms. An analysis of her peripheral blood lymphocytes showeci a 46,XX,r(19) cell line in 119/121 of cells examined. Of t
Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these
We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a second-trimester fetus with mosaic ring chromosome 13 and anencephaly. A 35-year-old, gravida 3, para 2 woman was referred for genetic counselling at 23 weeks' gestation because of an elevated maternal serum alpha