Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Genetic analysis of three children with disorders of sex development caused by structural rearrangements of Y chromosome].
СтатьяНазвание и аннотация: Перевод в очереди
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Ma Na, Liu Jing, Hu Jiancheng, Peng Ying, Xi Hui, Jia Zhengjun, Hu Rong, Wang Hua
Аннотация
OBJECTIVE: To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements.
METHODS: The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH).
RESULTS: The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3.
CONCLUSION: Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.
METHODS: The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH).
RESULTS: The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3.
CONCLUSION: Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.