Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality.
We 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 short or long arm of chromosome 5 as 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.
Migliori
M V
MV
Laboratorio di Citogenetica, Ospedale Salesi, Ancona, Italy.
Cherubini
V
V
Bartolotta
E
E
Pettinari
A
A
Pecora
R
R
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002895:Chromosomes, Human, Pair 5 / Q000648:ultrastructure*; D004393:Dwarfism, Pituitary / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D012303:Ring Chromosomes
D013006:Growth Hormone