Ring chromosome 13 in an infant with ambiguous genitalia.
Ring chromosome is a rare chromosomal abnormality. We report a case of ring chromosome 13 associated with ambiguous genitalia. Karyotype is the important investigation in the evaluation of a case with ambiguous genitalia and chromosomal analysis should not be limited to only presence of X and Y chromosomes.
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, UP, India.
V H
VH
Sankar
Shubha R
SR
Phadke
D000015:Abnormalities, Multiple / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D002658:Developmental Disabilities / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D012303:Ring Chromosomes