Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

Abstract

AimClinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay.MethodsPhenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7.ResultsThe proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral blood lymphocytes. The distal arm of chromosome 7p (at least 255 kb from the telomere) was part of an extra ring chromosome 7. In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing. There was no other chromosomal rearrangement detected by multicolour banding.InterpretationThis is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

Expansion of Semi-Automatic Processed Human Adipose-Derived Stem Cells in Medium Supplemented with Autologous Serum and Antioxidants

“…Once the cells reached 50-60% confluence, they were washed twice with phosphate buffered saline (PBS), detached by 0.25% trypsin-EDTA (Gibco BRL) and then replated at a density of 3000 cells/cm 2 under the same culture conditions. Karyotyping of ADSCs was performed following one month culture by established protocols [37].…”

“…We compared the growth of ADSCs in the medium containing 10% HAS and 10% FBS, and found that the growth is slower in the 10% HAS-supplemented medium ( Figure 3B). To improve the growth of ADSCs without the use of animal serum, we added two antioxidants (NAC and AsA2P) to the HAS-supplemented medium, where FGF-2, NAC and AsA2P supplements were collectively named MCA as previously described [37]. The morphology and growth of ADSCs between the following conditions were compared: 10% FBS, 10% HAS, 10% HAS+MCA and 2% HAS+MCA.…”

Molecular diagnosis of sex chromosome mosaics in fetal amniotic cells

“…With the development of molecular biology techniques, a number of diagnostic approaches have been utilized to diagnose fetal chromosome aneuploidy, such as FISH [ 9 , 10 ] short tandem repeat analysis (STR-QF-PCR) [ 11 ] and chromosomal microarray techniques. [ 12 ] All of these diagnostic techniques have the advantage of rapid diagnosis.…”

Características fenotípicas de paciente con cromosoma 7 en anillo

“…Una célula diploide cuenta con dos copias de cromosomas, a diferencia de la monosomía, que es una alteración genética donde se cuenta con una única copia de estas, e incluso segmentos; dando lugar a enfermedades genéticas humanas 1 . Los cromosomas en anillo son una alteración estructural del material genético, en lugar de una pérdida o ganancia de éste, producto de una disfunción de los telómeros; y se atribuye a la muerte de células con aneuploidía secundaria, causada por inestabilidad durante la mitosis 2 ; es común encontrarlo en solo una porción de todas las células analizadas, como mosaicismo 3 , y suelen surgir de novo y no más del 1% son heredados 2 . Esta inestabilidad, nivel de mosaicismo y posición del punto de ruptura del cromosoma van a definir las características del paciente.…”