A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies

Kline, Antonie D.; Griffin, Constance A.; Haddadin, Mary; Chudoba, Ilse; Morsberger, Laura; Hawkins, Anita L.; Amato, Roberto; Munshi, Gaurang; Cohen, Maimon M.

doi:10.1002/ajmg.a.30130

Cited by 6 publications

(5 citation statements)

References 16 publications

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“…Several imbalances involving chromosome 6 have been described [Schroer et al, 1980;Pivnick et al, 1990;Uhrich et al, 1991;Rubtsov et al, 1996;Stein et al, 1996;Henegariu et al, 1997;Hopkin et al, 1997;Kumar et al, 1997;Zneimer et al, 1998;Cappon et al, 2000;Gilhuis et al, 2000;Goh et al, 2000;Causio et al, 2001;Faivre et al, 2002;Temple and Shield, 2002;Giardino et al, 2003;Vermeesch and Fryns, 2003;Kline et al, 2004] and a hot spot of genomic instability corresponding to a known genomic disorder was reported on 6p (congenital adrenal hyperplasia III) [Bailey et al, 2002], thus suggesting that, as reported for other chromosomes, chromosome 6 could be prone to chromosomal imbalances due to the existence of complex genomic architecture that may create instability (Ji et al, 2000;Shaw and Lupski, 2004).…”

Section: Discussionmentioning

confidence: 91%

Three cases with de novo 6q imbalance and variable prenatal phenotype

et al. 2005

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We describe two families in which three fetuses had a de novo 6q imbalance and abnormal phenotypes. We determined the boundaries and the parental origin of the chromosomal alterations by segregation analysis using a panel of short tandem repeats (STRs) located on 6q. Cases 1 and 2 (family A) were two sibs with 6q imbalance involving different regions. Case 1 was a female fetus with arthrogryposis, who had a complex rearrangement resulting in two deleted regions (6q22 and 6q25.1-q25.2) and a duplication of 6q23-q25.1. This latter imbalance was reported previously and is associated with joint contractures and short neck, also present in this fetus. The sib (case 2) had intrauterine growth restriction (IUGR) and agenesis of the ductus venosus. This male died shortly after birth; postnatal karyotype and molecular investigations showed a 6q21 de novo deletion. Case 3 (family B) had a prenatally detected deletion of 6q14-q16. Autopsy of the fetus documented minor facial anomalies and contractures of the limbs. All rearrangements were de novo and of paternal origin. Our data and the consistent number of cases of de novo 6q alterations previously reported suggest that chromosome arm 6q could be prone to rearrangements resulting in heterogeneous phenotypes. In family A, chromosome 6q imbalances involving different chromosomal regions were present in two consecutive pregnancies. In such cases counseling should suggest the impossibility of excluding recurrence of a chromosomal imbalance, and should discuss the option of early prenatal diagnosis in subsequent pregnancies.

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Section: Discussionmentioning

confidence: 91%

Three cases with de novo 6q imbalance and variable prenatal phenotype

et al. 2005

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“…Individuals with pericentric inversions are at risk for producing offspring with large chromosomal gains and losses, while those carrying paracentric inversions usually produce unviable gametes [Madan, 1995]. A de novo complex karyotype with multiple cytogenetic abnormalities including a double inversion of chromosome 6 presenting in a child with multiple congenital anomalies has been described using conventional cytogenetics, FISH, and spectral karyotype [Kline et al, 2004], though the parents and siblings had normal chromosome complements. Breakage of a dicentric chromosome resulting from a paracentric inversion in a parent has been reported in a patient with developmental delay, poor auditory attention, impulsiveness, and a decreased attention span [Cooke et al, 2008].…”

Section: Discussionmentioning

confidence: 99%

Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient

Tirado¹,

Gotway²,

Torgbe³

et al. 2011

American J of Med Genetics Pt A

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Individuals with pericentric inversions are at risk for producing offspring with chromosomal gains and losses, while those carrying paracentric inversions usually produce unviable gametes [Madan, 1995]. In this current study, we present a newborn with dysmorphic features and malformations, whose karyotype showed an abnormal copy of chromomosome 7 described at first as add(7)(q32) as well as mos 45,X/47,XXX. Array comparative genomic hybridization (CGH) revealed an interstitial deletion in the long arm of chromosome 7 involving bands q35 to q36.3 but retaining the 7q subtelomere. The patient's deletion is believed to be due to meiotic recombination in the inversion loop in the phenotypically normal father who seems to carry two paracentric inversions in the long arm of chromosome 7, which was described as rec(7)(7pter- > q35::q36.3- > 7qter)pat. The abnormal copy of chromosome 7 in the father has been described as: der(7)(7pter- > q22.1::q36.3- > q35::q22.1- > q35::q36.3- > 7qter). This is a unique karyotype that to our knowledge has not been previously reported in the literature and predisposes to meiotic recombination that can result in deletions or duplications of 7q35-36.

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“…Several imbalances involving chromosome 6 have been described [Schroer et al, 1980; Pivnick et al, 1990; Uhrich et al, 1991; Rubtsov et al, 1996; Stein et al, 1996; Henegariu et al, 1997; Hopkin et al, 1997; Kumar et al, 1997; Zneimer et al, 1998; Cappon et al, 2000; Gilhuis et al, 2000; Goh et al, 2000; Causio et al, 2001; Faivre et al, 2002; Temple and Shield, 2002; Giardino et al, 2003; Vermeesch and Fryns, 2003; Kline et al, 2004] and a hot spot of genomic instability corresponding to a known genomic disorder was reported on 6p (congenital adrenal hyperplasia III) [Bailey et al, 2002], thus suggesting that, as reported for other chromosomes, chromosome 6 could be prone to chromosomal imbalances due to the existence of complex genomic architecture that may create instability (Ji et al, 2000; Shaw and Lupski, 2004).…”

Section: Discussionmentioning

confidence: 99%

Importance of the hybrid layer on the bond strength of restorations subjected to cyclic loading

Yamazaki¹,

Bedran-Russo²,

Pereira³

2007

J Biomed Mater Res

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The present study evaluated the long-term microtensile bond strength of collagen-depleted dentin followed by cyclic loading. Bovine flat, midcoronal dentin received one of the following surface treatments: acid-etch or acid-etched + 5% NaOCl for 2 min. The teeth were restored with Single Bond, Scotchbond Multi-purpose, One-Step Plus, or All-Bond 2 adhesive systems. Half of the specimens were randomly assigned to receive 200,000 cycles (50 N force). Teeth were sectioned into 1 x 1 mm thick slices and stored for 24 h, 1 month, 3 months, or 6 months. Specimens were subjected to tensile testing after elapsed storage time. Samples were analyzed by three-way ANOVA and Fisher's PLSD (p < 0.05). The results showed that the deproteinized groups without cyclic loading presented lower bond strength when compared with the control group, but the difference was only statistically significant for Single Bond and All-Bond 2 (p < 0.05). All adhesives presented a decrease in bond strength over time, regardless of the dentin treatment. When cyclic loaded, the decrease in bond strength for the deproteinized group was even greater when compared with the control group (p < 0.05). The results suggest that the hybrid layer is important as a stress-buffering layer when loading is applied, and thus the presence of collagen is essential.

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A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies

Cited by 6 publications

References 16 publications

Three cases with de novo 6q imbalance and variable prenatal phenotype

Three cases with de novo 6q imbalance and variable prenatal phenotype

Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient

Importance of the hybrid layer on the bond strength of restorations subjected to cyclic loading

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