Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation

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

DOI:https://doi.org/10.1002/ajmg.1320560128· OSTI ID:99083

Narahara, Kouji; Tsuji, Kazushiro; Yokoyama, Yuji ^[1]

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1. Okayama Univ. Medical School (Japan); and others

Cleidocranial displasia (CCD) is an autosomal-dominant, generalized skeletal disorder. The gene locus for this syndrome has not yet been mapped. The presence of rare chromosome rearrangements in Mendelian disorders has facilitated the localization or positional cloning of these disease genes. We report on another patient with autosomal-dominant CCD who had a balanced t(6;8) translocation. 3 refs., 2 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 99083
• 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 CHROMOSOME 6
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
HUMAN CHROMOSOME 18
PATIENTS
CONGENITAL MALFORMATIONS
SKELETAL DISEASES
DOMINANT MUTATIONS
GENES
DNA-CLONING
BANDING TECHNIQUES
KARYOTYPE