[Kleefstra syndrome 1 and ring chromosome 9 in a case].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(8): 837-840, 2019 Aug 10.
Article
em Zh
| MEDLINE
| ID: mdl-31400141
ABSTRACT
OBJECTIVE:
To analyze the clinical and molecular genetic characteristics of patient with Kleefstra syndrome 1.METHODS:
Clinical data, chromosomal karyotype and whole genome copy number variations (CNVs) of the patient were analyzed.RESULTS:
The patient was found to have a karyotype of 45,XX,-9[4]/46,XX,r(9)(p24q34)[56]. Whole-genome CNVs detection revealed that she has carried a heterozygous deletion of approximately 670 kb at 9q34.3, which encompassed the entire EHMT1 gene. The region is strongly associated with Kleefstra syndrome (1/9q telomere deletion). In addition, the patient also had heterozygous deletion of 9pter, which may predispose to formation of ring chromosome 9.CONCLUSION:
The child was diagnosed with Kleefstra syndrome type 1 in conjunct with ring chromosome 9.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos em Anel
/
Cromossomos Humanos Par 9
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Anormalidades Craniofaciais
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Cardiopatias Congênitas
/
Deficiência Intelectual
Limite:
Child
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Female
/
Humans
Idioma:
Zh
Ano de publicação:
2019
Tipo de documento:
Article