Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality

Journal Article · Sat Jan 01 00:00:00 EST 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320490121· OSTI ID:86479

Migliori, M V; Pettinari, A ^[1]; Cherubini, V; Bartolotta, E; Pecora, R ^[2]

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1. Ospedale Salesi, Ancona (Italy)
2. Ospedale S. Lucia, Recanati (Italy)

The authors report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either the short or long arm of chromosome 5 as a consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. 12 refs., 3 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 86479
• Journal Information: American Journal of Medical Genetics, Vol. 49, Issue 1; Other Information: PBD: 1 Jan 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 5
CHROMOSOMAL ABERRATIONS
ANIMAL GROWTH
INHIBITION
MENTAL DISORDERS