X Long-arm Deletions. A Review of Non-mosaic Cases Studied with Banding Techniques
Authors
Affiliations
A woman with secondary amenorrhoea and an X long-arm deletion (pter----q21:) is described and compared with 30 adult non-mosaic, banded cases. Approximately 50% of the patients had gonadal dysgenesis associated with a higher frequency of short stature and "Turner stigmata" than in women with indication of ovarian activity. It is suggested that preservation of bands Xq26----28 may be decisive for normal ovarian function.
A Turner syndrome neurocognitive phenotype maps to Xp22.3.
Zinn A, Roeltgen D, Stefanatos G, Ramos P, Elder F, Kushner H Behav Brain Funct. 2007; 3:24.
PMID: 17517138 PMC: 1891305. DOI: 10.1186/1744-9081-3-24.
Maraschio P, Tupler R, Barbierato L, Dainotti E, Larizza D, Bernardi F Hum Genet. 1996; 97(3):375-81.
PMID: 8786087 DOI: 10.1007/BF02185777.
Ogata T, Matsuo N Hum Genet. 1993; 91(6):551-62.
PMID: 8340109 DOI: 10.1007/BF00205079.
Ogata T, Matsuo N Hum Genet. 1995; 95(6):607-29.
PMID: 7789944 DOI: 10.1007/BF00209476.
A de novo X;13 translocation with abnormal phenotype.
Hodgson S, Barber J, Dowie A, Dubowitz V J Med Genet. 1986; 23(5):477-8.
PMID: 3783628 PMC: 1049790. DOI: 10.1136/jmg.23.5.477.