Abstract:
:Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique increases not only the diagnostic rate but also the possibility of finding unexpected variants unrelated to the indication of referral, namely incidental findings. The incidental finding of copy number variants (CNVs) located in X-linked genes in girls addresses the crucial question of genetic counseling in the family. We report here five cases of CNVs involving the dystrophin gene detected by aCGH in girls referred for developmental delay, without any family history of dystrophinopathy. The rearrangements included three in-frame deletions; one maternally and two paternally inherited, and two frameshift duplications: one de novo and one from undetermined inheritance. In two cases, the deletion identified in a girl was transmitted by the asymptomatic father. In the case of the maternally inherited deletion, prenatal diagnosis of dystrophinopathy was proposed for an ongoing pregnancy, whereas the cause of developmental delay in the index case remained unknown. Through these cases, we discussed the challenges of genetic counseling in the family, regarding the predictive issues for male individuals at risk for a muscular dystrophy without precise knowledge of the clinical consequences of some CNVs in the DMD gene.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Nguyen K,Putoux A,Busa T,Cordier MP,Sigaudy S,Till M,Chabrol B,Michel-Calemard L,Bernard R,Julia S,Malzac P,Labalme A,Missirian C,Edery P,Popovici C,Philip N,Sanlaville Ddoi
10.1111/cge.12421subject
Has Abstractpub_date
2015-05-01 00:00:00pages
488-91issue
5eissn
0009-9163issn
1399-0004journal_volume
87pub_type
杂志文章abstract::A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cous...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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pub_type: 杂志文章
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更新日期:1989-08-01 00:00:00
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journal_title:Clinical genetics
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pub_type: 杂志文章,评审
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journal_title:Clinical genetics
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更新日期:1992-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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