NDLI: A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions

Content Provider	Springer Nature Link
Author	Lachlan, K. L. Youings, S. Costa, T. Jacobs, P. A. Thomas, N. S.
Copyright Year	2005
Abstract	We have undertaken a clinical study of 26 females with deletions of Xp including five mother–daughter pairs. Cytogenetic and molecular analyses have mapped the breakpoints of the deletions. We determined the parental origin of each abnormality and studied the X-inactivation patterns. We describe the clinical features and compare them with the amount of Xp material lost. We discuss the putative loci for features of Turner syndrome and describe how our series contributes further to their delineation. We conclude that (1) fertility can be retained even with the loss of two-thirds of Xp, thus, if there are genes on Xp for ovarian development, they must be at Xp11–Xp11.2; (2) in our sample of patients there is no evidence to support the existence of a single lymphogenic gene on Xp; (3) there is no evidence for a second stature locus in proximal Xp; (4) there is no evidence to support the existence of a single gene for naevi; (5) we suggest that the interval in Xp21.1–Xp11.4 between DXS997 and DXS1368 may contain a gene conferring a predisposition to hypothyroidism.
Starting Page	640
Ending Page	651
Page Count	12
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	118
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2005-11-08
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Metabolic Diseases Internal Medicine Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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