SHORT STATURE IN A GIRL WITH PARTIAL MONOSOMY OF THE PSEUDOAUTOSOMAL REGION DISTAL TO DXYS15 - FURTHER EVIDENCE FOR THE ASSIGNMENT OF THE CRITICAL REGION FOR A PSEUDOAUTOSOMAL GROWTH GENE(S)

Authors
OGATA T YOSHIZAWA A MUROYA K MATSUO N FUKUSHIMA Y RAPPOLD G YOKOYA S
Citation
T. Ogata et al., SHORT STATURE IN A GIRL WITH PARTIAL MONOSOMY OF THE PSEUDOAUTOSOMAL REGION DISTAL TO DXYS15 - FURTHER EVIDENCE FOR THE ASSIGNMENT OF THE CRITICAL REGION FOR A PSEUDOAUTOSOMAL GROWTH GENE(S), Journal of Medical Genetics, 32(10), 1995, pp. 831-834
Citations number
17
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
32
Issue
10
Year of publication
1995
Pages
831 - 834
Database
ISI
SICI code
0022-2593(1995)32:10<831:SSIAGW>2.0.ZU;2-9
Abstract
This report describes a 12 year 10 month old girl with short stature a nd a non-mosaic 46,X,Xp + karyotype. Her height remained below -2 SD o f the mean, and her predicted adult height (143 cm) was below her targ et height (155.5 cm) and target range (147.5 cm-163.5 cm). Cytogenetic and molecular studies showed that the Xp+ chromosome was formed by an inverted duplication of the Xp21.3-Xp22.33 segment and was missing ab out 700 kb of DNA from the pseudoautosomal region distal to DXYS15. Th e results provide further support for the previously proposed hypothes is that the region between DXPS20 and DXYS15 is the critical region fo r a pseudoautosomal growth gene(s).