DOI 10.3760/cma.j.issn.1003-9406.2020.02.019

Медицинская библиотека · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020

[Clinical and genetic study of a child with delayed language development carrying ring 22 and a 22q13 microdeletion].

Kong Jinghui, Zhang Bo, Ge Lili, Song Yinsen

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Аннотация

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.

Для цитирования: Kong Jinghui, Zhang Bo, Ge Lili, Song Yinsen. [Clinical and genetic study of a child with delayed language development carrying ring 22 and a 22q13 microdeletion].. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2020. DOI: 10.3760/cma.j.issn.1003-9406.2020.02.019.

Предметные рубрики MeSH

Child Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 22 Female Genetic Counseling Humans Karyotyping Language Development Polymorphism, Single Nucleotide

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