A Clinical and Molecular Study of 26 Females with Xp Deletions with Special Emphasis on Inherited Deletions

Overview

Journal Hum Genet

Specialty Genetics

Date 2005 Nov 12

PMID 16283387

Citations 13

Authors

K L Lachlan

S Youings

T Costa

P A Jacobs

N S Thomas

Affiliations

Soon will be listed here.

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.

Citing Articles

Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.

Lin Q, Liang C, Du B, Li L, Li H, Mai X BMC Med Genomics. 2024; 17(1):57.

PMID: 38383389 PMC: 10880359. DOI: 10.1186/s12920-024-01824-8.

Female naïve human pluripotent stem cells carry X chromosomes with Xa-like and Xi-like folding conformations.

Patterson B, Yang B, Tanaka Y, Kim K, Cakir B, Xiang Y Sci Adv. 2023; 9(31):eadf2245.

PMID: 37540754 PMC: 10403202. DOI: 10.1126/sciadv.adf2245.

Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication.

Jo H, Jang H, Kim Y, Choi S, Park K, Yoo H Ann Pediatr Endocrinol Metab. 2023; 28(Suppl 1):S14-S16.

PMID: 36731505 PMC: 10783925. DOI: 10.6065/apem.2244122.061.

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome.

Luo H, Ni L, Yang Y, Zhang X, Huang H, Tan S Mol Cytogenet. 2022; 15(1):15.

PMID: 35361246 PMC: 8973883. DOI: 10.1186/s13039-022-00593-2.

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage.

Zhang X, Hong D, Ma S, Ward T, Ho M, Pattni R Proc Natl Acad Sci U S A. 2020; 117(9):4864-4873.

PMID: 32071206 PMC: 7060706. DOI: 10.1073/pnas.1910003117.

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