Clinical and genetic study of a child with delayed language development carrying ring 22 and a 22q13 microdeletion / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child featuring delayed language development.@*METHODS@#The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP array) analysis.@*RESULTS@#The karyotype of the child was 46, XY, r(22)(p11.2q13). SNP array analysis has identified a hemizygous 1.67 Mb deletion at 22q13 (arr [Hg19]22q13.33 (49 531 302-51 197 766)×1).@*CONCLUSION@#The child has carried a ring 22 in addition with a 22q13 microdeletion. The results may provide clues for her condition and genetic counseling for the family.