Genetic analysis of a child with mental retardation and hypospadia

Na MA; Jialun Pang; Ying Peng; Zhengjun Jia; Hui XI; Guoying Liu; Yuchun Zhou; Hua Wang

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Genetic analysis of a child with mental retardation and hypospadia

VernacularTitle: 一例智力低下伴尿道下裂患儿的遗传学分析
Author: Na MA ¹ ; Jialun PANG ¹ ; Ying PENG ¹ ; Zhengjun JIA ¹ ; Hui XI ¹ ; Guoying LIU ¹ ; Yuchun ZHOU ¹ ; Hua WANG ^{1
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Author Information

1. Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China
2. National Health Committee Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, Hunan 410008, China
Publication Type:Clinical Trail
Keywords: Cryptic translocation; Karyotyping; Single nucleotide polymorphism-based array analysis; Fluorescence in situ hybridization; Hypospadia
From: Chinese Journal of Medical Genetics 2019;36(12):1199-1202
CountryChina
Language:Chinese
Abstract: Objective:To carry out genetic testing for a boy presenting with mental retardation and hypoplasia.
Methods:Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents.
Results:SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46, XX, ish ins(11; 2)(p15; q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46, XY, ish der(11)ins(11; 2)(p15; q33q36)mat.
Conclusion:SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.