No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome

Journal Article · Sat Jan 01 04:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320490131· OSTI ID:86481

De Marchi, N; Antonarakis, S E ^[1]; Jackson, L ^[2]

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1. Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)
2. Jefferson Medical College, Philadelphia, PA (United States)

Brachmann-De Lange syndrome (BDLS, MIM No. 122470) is a well-described genetic syndrome of mental retardation and multiple congenital anomalies, with an estimated birth prevalence of 1/10,000. The authors set out to test the hypothesis that some cases of BDLS are associated with uniparental disomy for chromosome 3, especially for 3q21-qtre. The following DNA polymorphic markers were used to test for uniparental disomy:SST maps on 3q28; GLUT2 on 3q26.1-q26.3; D3S196 on 3q24-q26, D3S1101 on 3p21-cen and D3S1206 on 3q21-q24. The order of these loci in the linkage map of chromosome 3 is pter-D3S1101-cen-D3S1206-D3S196-GLUT2-SST [NIH/CEPH Collaborative Mapping Group, 1992]. All of these polymorphisms are due to dinucleotide repeats and genotypes in the families were obtained as described. In 22 families UPD3q has been excluded. Four families were not informative for the markers used. There were no families with UPD3q. The authors concluded that UPD3q is not associated with most cases of BDLS; however, this study does not exclude the possibility of UPD for a small portion of 3q, that has not been examined with the markers used.

• Sponsoring Organization: USDOE
• OSTI ID: 86481
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 49; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
ETIOLOGY
HUMAN CHROMOSOME 3
MENTAL DISORDERS