Sheth Jayesh, Joshi Rajesh, Sheth Frenny
FRIGE (Foundation for Research in Genetics and Endocrinology) Genetic Centre, 20/1, Bima Nagar, Satellite, Ahmedabad, India.
Indian J Pediatr. 2007 May;74(5):507-8. doi: 10.1007/s12098-007-0090-2.
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.
环形染色体是一种罕见的遗传性疾病，在临床表现和表型各异的儿童中可见。在几种环形染色体形成类型中，9号环状染色体（r(9)）患者的临床特征通常不太明显。一名8个月大的男孩，表现为眉毛浓密色深、舌头突出、小头畸形、身材矮小且发育不良，被发现患有9号环状染色体。核型为46,X,inv(Y),r(9)(p24q34)。这表明核型分析是畸形儿童管理中必不可少的一项重要检查。
