Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report

<p>Abstract</p> <p>Introduction</p> <p>Small supernumerary marker chromosomes are still a problem in cytogenetic diagnostic and genetic counseling. This holds especially true for the rare cases with multiple small supernumerary marker chromosomes. Most such cases are reported to be clinically severely affected due to the chromosomal imbalances induced by the presence of small supernumerary marker chromosomes. Here we report the first case of a patient having four different small supernumerary marker chromosomes which, apart from slight developmental retardation in youth and non-malignant hyperpigmentation, presented no other clinical signs.</p> <p>Case presentation</p> <p>Our patient was a 30-year-old Caucasian man, delivered by caesarean section because of macrosomy. At birth he presented with bilateral cryptorchidism but no other birth defects. At age of around two years he showed psychomotor delay and a bilateral convergent strabismus. Later he had slight learning difficulties, with normal social behavior and now lives an independent life as an adult. Apart from hypogenitalism, he has multiple hyperpigmented nevi all over his body, short feet with pes cavus and claw toes. At age of 30 years, cytogenetic and molecular cytogenetic analysis revealed a karyotype of 50,XY,+min(6)(:p11.1-> q11.1:),+min(8)(:p11.1->q11.1:),+min(11)(:p11.11->q11:),+min(12)(:p11.2~12->q10:), leading overall to a small partial trisomy in 12p11.1~12.1.</p> <p>Conclusions</p> <p>Including this case, four single case reports are available in the literature with a karyotype 50,XN,+4mar. For prenatally detected multiple small supernumerary marker chromosomes in particular we learn from this case that such a cytogenetic condition may be correlated with a positive clinical outcome.</p

An update on small supernumerary marker chromosomes (sSMC)

Here we provide an update on the present knowledge on sSMC formation, shape, content and clinical consequence

Delayed feedback control of self-mobile cavity solitons in a wide-aperture laser with a saturable absorber

We investigate the spatiotemporal dynamics of cavity solitons in a broad area vertical-cavity surface-emitting laser with saturable absorption subjected to time-delayed optical feedback. Using a combination of analytical, numerical and path continuation methods we analyze the bifurcation structure of stationary and moving cavity solitons and identify two different types of traveling localized solutions, corresponding to slow and fast motion. We show that the delay impacts both stationary and moving solutions either causing drifting and wiggling dynamics of initially stationary cavity solitons or leading to stabilization of intrinsically moving solutions. Finally, we demonstrate that the fast cavity solitons can be associated with a lateral mode-locking regime in a broad-area laser with a single longitudinal mode

First report on a 20qh+ heteromorphism characterized by molecular cytogenetics as amplification of D20Z1 sequences

Since literature is still lacking the exact characterization or complete documentation of numerous CHMs, we aimed to characterize CHMs on chromosome 20 and to characterize whether these result from an amplification of D20Z1 or D20Z2 or bot

About the origin of the acrocentric part of non-acrocentric satellited chromosomes in humans

Here we characterized 11 healthy carriers of a non-acrocentric satellited chromosomes der(A)t(A;acro)(pter or qter;p1?1.2) to determine the frequency of chromosome 15p and 22p in such rearrangement

First molecular cytogenetic characterization of the MMT 060562 murine breast cancer cell line

To provide detailed cytogenetic characterization of the MMT 060562 cancer cell lin

In-Line-Test of Variability and Bit-Error-Rate of HfOx-Based Resistive Memory

Spatial and temporal variability of HfOx-based resistive random access memory (RRAM) are investigated for manufacturing and product designs. Manufacturing variability is characterized at different levels including lots, wafers, and chips. Bit-error-rate (BER) is proposed as a holistic parameter for the write cycle resistance statistics. Using the electrical in-line-test cycle data, a method is developed to derive BERs as functions of the design margin, to provide guidance for technology evaluation and product design. The proposed BER calculation can also be used in the off-line bench test and build-in-self-test (BIST) for adaptive error correction and for the other types of random access memories.Comment: 4 pages. Memory Workshop (IMW), 2015 IEEE Internationa

Spin Driven Jahn-Teller Distortion in a Pyrochlore system

The ground-state properties of the spin-1 antiferromagnetic Heisenberg model on the corner-sharing tetrahedra, pyrochlore lattice, is investigated. By breaking up each spin into a pair of 1/2-spins, the problem is reduced to the equivalent one of the spin-1/2 tetrahedral network in analogy with the valence bond solid state in one dimension. The twofold degeneracy of the spin-singlets of a tetrahedron is lifted by a Jahn-Teller mechanism, leading to a cubic to tetragonal structural transition. It is proposed that the present mechanism is responsible for the phase transition observed in the spin-1 spinel compounds ZnV$_2$O$_4$ and MgV$_2$O$_4$.Comment: 4 pages, 3 eps figures, REVTeX, to appear in Phys. Rev. Let

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

<p>Abstract</p> <p>Background</p> <p>The heterogeneous group of small supernumerary marker chromosomes (sSMCs) presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated at 1 in 1000 prenatal samples. We present a case of mosaic sSMC diagnosed prenatally after amniocentesis. The sSMC was characterized by various molecular cytogenetic techniques and determined to be a r(20) chromosome. After genetic counseling, the parents decided to continue the pregnancy, and a boy with minor phenotypic variants was born after 39 weeks of pregnancy. The case is compared with four other cases of prenatally detected r(20) mosaicism.</p> <p>Results</p> <p>Here we describe a 3 months old male child with normal pre- and postnatal development and with a de novo ring supernumerary marker chromosome in amniocytes cultures. Using new fluorescence in situ hybridization (FISH) techniques, three distinguishable sSMCs (cryptic mosaicism), all derived from chromosome 20, were observed, including ring and minute chromosomes. This heterogeneity was impossible to detect by the conventional G-banding technique or conventional FISH technique that were used before the application of new FISH techniques (subcentromere-specific multicolor-FISH [subcenM-FISH]) and a probe, specific for the 20p12.2 band. The sSMC present in 25% of the cells was present as r(20)(::p12.2~12.3->q11.1::)<abbrgrp><abbr bid="B5">5</abbr></abbrgrp>/r(20;20)(::p12.1->q11.1::q11.1 >p12.1::)<abbrgrp><abbr bid="B2">2</abbr></abbrgrp>/min(20;20)(:p12.1->q11.1::q11.1->p12.1:)<abbrgrp><abbr bid="B1">1</abbr></abbrgrp>. The final karyotype was 47,XY,+r(20)[25%]/46,XY[75%].</p> <p>Conclusion</p> <p>We emphasize the importance of application of molecular cytogenetics in a prenatally diagnostic laboratory and description of more cases to enable a better genetic counseling and risk evaluation.</p