Ring chromosome 13 in an infant with ambiguous genitalia

V H Sankar; Shubha R Phadke

Ring chromosome 13 in an infant with ambiguous genitalia

Indian Pediatr. 2006 Mar;43(3):258-60.

Authors

V H Sankar¹, Shubha R Phadke

Affiliation

¹ Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, UP, India.

PMID: 16585823

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Chromosomes, Human, Pair 13*
Developmental Disabilities / genetics
Disorders of Sex Development / genetics*
Face / abnormalities
Humans
Infant
Male
Ring Chromosomes*