Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20)X(q32.1;q13.2)

Journal Article · Fri Jan 31 04:00:00 EST 1997 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19970131)68:3<279::AID-AJMG6>3.3.CO;2-R· OSTI ID:518273

Alley, T L; Wallace, M R ^[1]; Scherer, S W ^[2]

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1. Univ. of Florida, Gainesville, FL (United States)
2. Univ. of Toronto (Canada); and others

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by multiple congenital anomalies and mental retardation. SLOS has an associated defect in cholesterol biosynthesis, but the molecular genetic basis of this condition has not yet been elucidated. Previously our group reported a patient with a de novo balanced translocation [t(7;20)(q32.1;q13.2)] fitting the clinical and biochemical profile of SLOS. Employing fluorescence in situ hybridization (FISH), a 1.8 Mb chromosome 7-specific yeast artificial chromosome (YAC) was identified which spanned the translocation breakpoint in the reported patient. The following is an update of the on-going pursuit to physically and genetically map the region further, as well as the establishment of candidate genes in the 7q32.1 breakpoint region. 11 refs., 1 fig.

• OSTI ID: 518273
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 68; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOSYNTHESIS
CHOLESTEROL
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DNA-CLONING
FLUORESCENCE
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 7
HUMAN CHROMOSOMES
IN-SITU HYBRIDIZATION
MENTAL DISORDERS
PATIENTS
RECESSIVE MUTATIONS