Document Detail

Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23.
MedLine Citation:
PMID:  7747779     Owner:  NLM     Status:  MEDLINE    
We report on a girl with a de novo monosomy Xpter-->Xp22.3 and trisomy 3pter-->3p23, normal development and stature, mildly affected phenotype, and learning disabilities with a low normal level of intelligence. Late replication studies using BudR demonstrated that the entire der(X) was inactive in 30% of cells. In 62% of cells the inactivation did not spread to the autosomal segment in the der(X). The normal X was inactivated in 8% of cells. Quantitative X-inactivation studies using the human androgen receptor locus assay (HAR) on peripheral leukocytes and buccal epithelial cells showed extreme skewing of methylation (90.4% of the paternal allele). The correlation of cytogenetic and molecular data suggest that the mild phenotype of the proposita is most likely due to preferential inactivation of the entire der(X), which seems to be of paternal origin.
A S Kulharya; H Roop; M K Kukolich; R G Nachtman; J W Belmont; J Garcia-Heras
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  56     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-06-13     Completed Date:  1995-06-13     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  16-21     Citation Subset:  IM    
Genetic Screening and Counseling Service, Texas Department of Health, Denton, USA.
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MeSH Terms
Child, Preschool
Chromosome Aberrations*
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 3 / genetics*
DNA / blood
Dosage Compensation, Genetic
Genetic Markers
Multigene Family
Receptors, Androgen / genetics,  metabolism
X Chromosome / genetics*,  metabolism
Reg. No./Substance:
0/Genetic Markers; 0/Receptors, Androgen; 9007-49-2/DNA

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