Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency |
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| Authors: | Lise Bjerglund Nielsen K. Boczkowski Margareta Mikkelsen Gudrun Dahl Else Andersen |
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| Affiliation: | (1) The John F. Kennedy Institute, Gl. Landevej 7, DK-2600 Glostrup, Denmark;(2) Division of Genetics, Institute of Obstetrics and Gynecology, Medical Academy, PJ. Starynkiewicza 1, 02-015 Warsaw, Poland;(3) Institution for the Mentally Retarded, !["ldquo"]("/content/uk2126820n41452t/xlarge8220.gif") Sølund!["rdquo"]("/content/uk2126820n41452t/xlarge8221.gif") , DK-8660 Skanderborg, Denmark;(4) Pediatric Department, Central Hospital of Frederiksborg County, DK-3400 Hillerød, Denmark |
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| Abstract: | Summary Four girls with some clinical symptoms of Turner's syndrome had Xq duplication and Xp deficiency, their karyotypes being 46,X,dup(X)(p113;q11), 46,X,dup(X)(p212;q211), 46,X,dup(X)(p225;q13), and 46,X,dup(X)(p222;q213). No mosaicism was found.The major clinical findings, short stature, lack of pterygium colli, and no continuous gamete production, are compared with those in three previously published cases. |
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