| Literature DB >> 17526969 |
Jayesh Sheth1, Rajesh Joshi, Frenny Sheth.
Abstract
Ring chromosome is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. An eight-mth-old boy, presenting with broad and dark eyebrows with protruding tongue, microcephaly, short stature and failure to thrive was found to have ring chromosome 9. 46,X,inv(Y),r(9)(p24q34). This shows that karyotype study is an essential integral investigation in the management of dysmorphic child.Entities:
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Year: 2007 PMID: 17526969 DOI: 10.1007/s12098-007-0090-2
Source DB: PubMed Journal: Indian J Pediatr ISSN: 0019-5456 Impact factor: 5.319