De novo ?pure? partial trisomy (6)(p22.1?pter) in a chromosome 15 with an enlarged satellite, identified by microdissection

Engelen, J. J. M.; Marcelis, Carlo; Alofs, M; Loneus, W.H.; Pulles-Heintzberger, C. F. M.; Hamers, A.J.H.

doi:10.1002/1096-8628(20010215)99:1<48::aid-ajmg1128>3.0.co;2-t

Cited by 23 publications

(19 citation statements)

References 23 publications

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“…Although these children have dysmorphologic and developmental issues, they appear to survive the infancy (12)(13)(14)(15). For example, for case 2, one might argue that existence of a positive history is against the very concept of a detrimental de novo aberration.…”

Section: Discussionmentioning

confidence: 99%

Copy number variations in three children with sudden infant death

et al. 2009

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Sudden death of an infant is a devastating event that needs an explanation. When an explanation cannot be found, the case is labeled as sudden infant death syndrome or unclassified sudden infant death. The influence of genetic factors has been recognized for sudden infant death, but copy number variations (CNVs) as potential risk factors have not been evaluated yet. Twenty-seven families were enrolled in this study. The tissue specimens from deceased children were obtained and array-based comparative genomic hybridization (array-CGH) experiments were performed on the genomic DNA isolated from these specimens using Agilent Technologies Custom 4 x 44K arrays. Quantitative polymerase chain reaction experiments were performed to confirm the overlapping duplication and deletion region in two different cases. A de novo CNV is detected in 3 of 27 cases (11%). In case 1, an approximately 3-Mb (chr 8: 143,211,215-qter) duplication on 8q24.3-qter and a 4.4-Mb deletion on the 22q13.3-qter (chr 22: 45,047,068-qter) were detected. Subtelomeric chromosome analysis of the father and the surviving sibling of case 1 showed a balanced reciprocal translocation, 46,XY,t(8;22)(q24.3;q13.3). A 240-kb (chr 6: 26,139,810-26,380,787) duplication and a 1.9-Mb deletion (chr 6: 26,085,971-27,966,150) at chromosome 6p22 were found in cases 2 and 3, respectively. Array-CGH and conventional cytogenetic studies did not reveal the observed CNVs in the parents and the siblings of cases 2 and 3. The detected CNVs in cases 2 and 3 encompassed several genes including the major histone cluster genes. Array-CGH analysis may be beneficial during the investigations after sudden infant death.

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Section: Discussionmentioning

confidence: 99%

Copy number variations in three children with sudden infant death

et al. 2009

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“…All these cases are cytogenetically heterogeneous and their severity mainly depends on the gene contents of the duplicated region. However, partial 6p trisomy is a well‐defined syndrome, characterized by low birth weight, growth retardation, developmental delay, feeding problems, recurrent infections, and several craniofacial abnormalities, such as blepharophimosis, blepharoptosis, low‐set or malformed ears, small, pointed chin, bulbous nose, and thin lip vermilion [Delatycki et al, ; Villa et al, ; Engelen et al, ; Ng et al, ; Giardino et al, ; Fogu et al, ; Andrieux et al, ; Bart et al, ].…”

Section: Discussionmentioning

confidence: 99%

Familial trisomy 6p in mother and daughter

Savarese

Grandone

Perone

et al. 2013

American J of Med Genetics Pt A

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Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial tandem duplication. The patient, an 11-year-old female, presented with mild dysmorphic features, moderate intellectual disability with behavioral disturbances, immunodeficiency, and epilepsy. Conventional cytogenetic analysis showed a duplication of the 6p region in the patient and in her mother presenting with a partially overlapping phenotype. The rearrangement was confirmed and defined by molecular cytogenetic analysis, including FISH and array CGH analysis showing a gain of ~13.8 Mb from 6p12.3 to 6p21.31. The phenotype of a pure partial trisomy 6p is extremely heterogeneous depending on the gene contents of the duplicated region. The clinical features of our patients have been compared with overlapping cases from the literature.

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“…Interestingly, a case mosaic for a small supernumerary marker chromosome (sSMC) consisting of a portion of 6p has also been described [Villa et al, 2007]. Finally, a few patients could be considered as carriers of a virtually pure 6p trisomy, due to the rearrangement of this segment with a phenotypically irrelevant chromosomal region such as the short arm of an acrocentric chromosome [Chiyo et al, 1975; Engelen et al, 2001] or the long arm of chromosome Y [Giardino et al, 2002].…”

Section: Introductionmentioning

confidence: 99%

Pure de novo partial trisomy 6p in a girl with craniosynostosis

Varvagiannis

Stefanidou

Gyftodimou

et al. 2013

American J of Med Genetics Pt A

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Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, however, was craniosynostosis, manifested by the premature fusion of the right coronal and sagittal sutures. A review of the literature revealed that the presence of abnormal fontanelles and sutures is relatively common among patients with proximal trisomy 6p. Exclusion of the most frequently occurring craniosynostosis mutations, as well as of further chromosomal anomalies in our case, suggest the presence of a gene regulating suture formation within this region. Based on recent findings, we hypothesize that the runt-related transcription factor 2 (RUNX2) may be a reasonable candidate gene for craniosynostosis in such patients.

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De novo ?pure? partial trisomy (6)(p22.1?pter) in a chromosome 15 with an enlarged satellite, identified by microdissection

Cited by 23 publications

References 23 publications

Copy number variations in three children with sudden infant death

Copy number variations in three children with sudden infant death

Familial trisomy 6p in mother and daughter

Pure de novo partial trisomy 6p in a girl with craniosynostosis

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