Germline mosaicism at the fragile X locus

Journal Article · Mon Jan 30 00:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320550327· OSTI ID:91131

Prior, T W; Papp, A C; Snyder, P J ^[1]

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1. Ohio State Univ., Columbus, OH (United States); and others

We have identified a fragile X syndrome pedigree where the disorder is associated with a molecular deletion. The deletion was present in the DNA of 2 sons but was absent in the mother`s somatic cell (lymphocyte) DNA. The results are consistent with the deletion arising as a postzygotic event in the mother, who therefore is germinally mosaic. This finding has important implications for counseling fragile X families with deletion mutations. 13 refs., 2 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 91131
• Journal Information: American Journal of Medical Genetics, Vol. 55, Issue 3; Other Information: PBD: 30 Jan 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN X CHROMOSOME
CHROMOSOMAL ABERRATIONS
GENE MUTATIONS
PATIENTS
MENTAL DISORDERS
MOSAICISM
DNA HYBRIDIZATION
GENES
ELECTROPHORESIS
GENETICS
POLYMERASE CHAIN REACTION