Mild phenotypic effects of a de novo deletion Xpter {yields} Xp22.3 and duplication 3pter {yields} 3p23

Journal Article · Mon Mar 13 00:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320560106· OSTI ID:99069

Kulharya, A S; Roop, H; Kukolich, M K ^[1]

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1. Texas Dept. of Health, Denton, TX (United States); and others

We report on a girl with a de novo monosomy Xpter {yields} Xp22.3 and trisomy 3pter {yields} 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. 11 refs., 5 figs., 3 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 99069
• Journal Information: American Journal of Medical Genetics, Vol. 56, Issue 1; Other Information: PBD: 13 Mar 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN X CHROMOSOME
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
MOLECULAR BIOLOGY
HUMAN CHROMOSOME 3
PATIENTS
MENTAL DISORDERS
PHENOTYPE
HEREDITARY DISEASES
CONGENITAL MALFORMATIONS
DNA
METHYLATION
GENETICS
BIOLOGICAL MARKERS
POLYMERASE CHAIN REACTION
GENOTYPE
FLUORESCENCE
GENES