Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11

Journal Article · Mon Apr 01 04:00:00 EST 1996 · American Journal of Human Genetics

OSTI ID:285054

Bartsch, O; Werner, W; Hinkel, G K ^[1]; Van Hul, W; Willems, P J ^[2]

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1. Univ. Hospital Dresden (Germany)
2. Univ. of Antwerp (Belgium); and others

A contiguous gene syndrome due to deletions of the proximal short arm of chromosome 11 is described in eight patients belonging to four families. The main clinical features are multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation. The patients have cytogenetic and/or molecular deletions of chromosome 11p11-p13. These deletions are located between the centromere and D11S914 in a region of {approximately}20 cM. The present study confirms the presence of a multiple exostoses gene on chromosome 11p. Furthermore, it suggests that the gene for isolated foramina parietalia permagna and genes associated with craniofacial dysostosis and mental retardation reside in the same chromosomal region. 31 refs., 5 figs., 1 tab.

• OSTI ID: 285054
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 58; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BANDING TECHNIQUES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
DOMINANT MUTATIONS
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOMES
MENTAL DISORDERS
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
SKELETAL DISEASES