Inherited cryptic chromosomal aberrations may be more easily detected in their balanced forms: a case report with hidden der(1)t(1;17)(q44;p13.2)

Liehr, Thomas; Heller, Anita; Eichhorn, Karl-Heinz; Beensen, Volkmar; Schulze, E; Starke, Heike; Claussen, Uwe; Schreyer, Isolde

doi:10.1002/pd.971

Cited by 7 publications

(3 citation statements)

References 7 publications

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“…Unlike previous report [11], we showed another case that the proband carried an unbalanced translocation inherited from a balanced translocation carrier parent, which resulted in partial monosomy for 18p and partial trisomy for 7q. The 18p deletion spanned approximately 14 Mb and the 7q duplication about 11.2 Mb, which meant the derivative chromosome was 2.8 Mb shorter than chromosome 18.…”

Section: Discussioncontrasting

confidence: 88%

A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics

et al. 2014

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BackgroundArray-based comparative genomic hybridization possesses a number of significant advantages over conventional cytogenetic and other molecular cytogenetic techniques, providing a sensitive and comprehensive detection platform for unexpected imbalances in the genome wide.Case presentationThe newborn proband, demonstrated with craniofacial dysmorphism and multiple malformations, was born to a family with spontaneous abortions. This pregnancy was uneventful, except the prenatal ultrasound examination showed an increased nuchal translucency at 12+ weeks of gestation. Cytogenetics revealed an apparently normal karyotype, and the couple decided to continue the pregnancy. Array-based CGH analysis was applied to the affected infant, identified a combination of 18p deletion and 7q duplication. Further study indicates that the unbalanced translocation was inherited from a balanced translocation carrier parent.ConclusionsIn review of the case, several overlooked points leading to the missed diagnosis should be discussed and certain quality control strategies should be adopted to avoid similar problems in the future. Array-based CGH and karyotyping techniques are complemented by diverse detection spectrum and resolutions, and a combination of these methods could help providing optimal genetic diagnosis. Given that the array-CGH analysis will not introduce additional risk to patients, it is reasonable to recommend those already undergoing invasive testing should take array-based CGH as an adjunct to conventional cytogenetic tests and other molecular cytogenetic analysis.

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Section: Discussioncontrasting

confidence: 88%

A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics

et al. 2014

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“…One hundred break-events in 48 patients referred for molecular-cytogenetic characterization due to unexplained infertility, repeated abortions and/or born or unborn children with an 'uncommon' chromosomal imbalance are reported here. All patients, except 'unexplained infertility' were clinically normal and not previously reported in the literature; only case 26 was previously described (9). To the best of our knowledge this is the largest such study ever reported.…”

Section: Discussionmentioning

confidence: 62%

Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints

Manvelyan¹,

Schreyer²,

I³

et al. 2007

Int J Mol Med

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Abstract. A molecular cytogenetic study was performed on 48 infertile patients who were identified as carriers of balanced translocations (40 cases), inversions (6 cases) or insertions (2 cases) by means of banding cytogenetics. Cases with a Robertsonian translocation or pericentric inversion 2 or 9 were not included. In summary, 100 break-events occurred in these patients, and 90 different chromosomal regions were involved. Thus, this study confirmed the presence of abnormal karyotypes in a subgroup of patients seeking infertility treatment. Breaks were demonstrated to appear preferentially in GTG-light bands in these patients. Furthermore, the observed breakpoints were associated with genomic regions prone to instability due to the presence of segmental duplications. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.

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“…Another case of a cryptic translocation in one of the healthy parents was reported [34] in a case where FISH showed a t(1;17)(q44;p13.2) translocation in the father, which subsequently enabled the characterization of the der(1) chromosomal abnormality in the index patient. It is important that cryptic translocations are kept in mind, and that parental karyotypes are analyzed in cases of mentally retarded children with normal karyotype.…”

Section: Discussionmentioning

confidence: 99%

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Manolakos¹,

Sarri

Vetro

et al. 2011

Mol Cytogenet

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BackgroundDeletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of imprinted genes. The phenotype of this syndrome varies but has been clearly associated with developmental delay and autistic spectrum disorders. Co-existence of the two syndromes has not been reported so far.ResultsHere we report a 6-year-old boy presenting growth retardation, dysmorphic features and who exhibited learning difficulties. Fluorescence in situ hybridization (FISH) analysis of the proband revealed a deletion of DiGeorge Syndrome critical region (TUPLE). Array-CGH analysis revealed an interstitial duplication of 12 Mb in size in the area 15q11.2-q13.3, combined with a 3.2 Mb deletion at region 22q11.1-q11.21. FISH analysis in the mother showed a cryptic balanced translocation between chromosome 15 and chromosome 22 (not evident by classic karyotyping).DiscusionThe clinical manifestations could be related to both syndromes and the importance of array-CGH analysis in cases of unexplained developmental delay is emphasized. The present case further demonstrates how molecular cytogenetic techniques applied in the parents were necessary for the genetic counseling of the family.

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Inherited cryptic chromosomal aberrations may be more easily detected in their balanced forms: a case report with hidden der(1)t(1;17)(q44;p13.2)

Cited by 7 publications

References 7 publications

A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics

A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics

Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

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