Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome

Journal Article · Mon Jan 02 00:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320550106· OSTI ID:91095

Nagai, T; Kato, R; Hasegawa, T ^[1]

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1. Tokyo Metropolitan Kiyose Children`s Hospital (Japan); and others

We describe a 5-year-old Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)-chondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia, small thoracic cage, hypoplastic pelvis and cone-shaped epiphyses of hands. On cytogenetic studies he was found to have a de novo del(12)(p11.21p12.2). These results suggest that the locus of the gene associated with ATD-chondroectodermal dysplasia may be situated at 12p11.21p12.2. 11 refs., 2 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 91095
• Journal Information: American Journal of Medical Genetics, Vol. 55, Issue 1; Other Information: PBD: 2 Jan 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 12
CHROMOSOMAL ABERRATIONS
PATIENTS
MENTAL DISORDERS
RESPIRATORY SYSTEM DISEASES
GENES
RECESSIVE MUTATIONS