In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation. Mosaicism wa
Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes
β Scribed by Hirschhorn, Kurt
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 855 B
- Volume
- 76
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980413)76:5<447::aid-ajmg15>3.0.co;2-m
No coin nor oath required. For personal study only.
β¦ Synopsis
I have read with great interest the paper by Crowe et al. [1997]. It is an excellent clinical and cytogenetic review of trisomy 22 in its various manifestations. I only wish to point out that the first proven case (by G-banding) of trisomy 22 appeared in 1973, in a paper in which we demonstrated the power of banding inprecise identification of chromosomal abnormalities [Hirschhorn et al., 1973]. This paper seems to be somewhat lost in the cytogenetic literature [see Hirschhorn, 1996].
π SIMILAR VOLUMES
Trisomy 22 was detected in a 32-week-old fetus born to an overweight mother with hypertension. Severe intrauterine growth retardation was associated with phenotypic manifestations of Fryns syndrome: diaphragmatic hernia, facial defects, and nail hypoplasia with short distal fifth phalanges. This is
We report on a fetus with 47,XX,+15 chromosome abnormality detected on chorionic villus sampling (CVS). The pregnancy was terminated at 15.5 weeks of gestation and chromosome analysis done on amniocytes and fetal tissues showed a karyotype 4 6 m 47,XX,+ 15. Autopsy showed multiple abnormalities. Sho
We describe a patient with trisomy 8 mosaicism followed through a sixth pregnancy and discuss issues in phenotypic and genotypic variability, the risk for neoplasia, and reproductive risks.
22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age β₯18 years) with 22qDS and compared the prevalence of key findings to those reported in a large European survey of 22
We describe a liveborn infant with uniparental disomy (UPD) with trisomy 15 mosaicism. Third trimester amniocentesis yielded a 46W47,XX, + 15 karyotype. Symmetrical growth retardation, distinct craniofacies, congenital heart disease, severe hypotonia and minor skeletal anomalies were noted. The infa