Systematic genetic analysis for a case with duplication 9p / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the genetic cause for a case with growth retardation and mental retardation.</p><p><b>METHODS</b>After conventional peripheral blood karyotyping with G-banding, the abnormal chromosome was identified as suspicious 9p duplication by multiplex ligation dependent probe amplification (MLPA) .</p><p><b>RESULTS</b>The proband's karyotype was suspicious 46,XY,der(9)t(9;14)(q13;q11.2), then the abnormal chromosome 9 was identified as 9p duplication with MLPA. The 9p duplication occurs because of a balanced chromosomal rearrangement between two chromosomes of 9 and 14 in the proband's father.</p><p><b>CONCLUSION</b>9p11.2-p24.3 duplication is the cause of abnormal phenotypes in the child patient. Cytogenetic methods combined with MLPA can efficiently identify abnormal chromosomes and provide accurate results for clinical diagnosis and treatment.</p>