Humans ; Chromosome Deletion ; Chromosome Duplication

Partial Trisomy of 3p (Trisomy of 3p2, dup (3) (p23-->pter)) is a characteristic syndrome of chromosomal duplication of distal part of 3p, but breakpoints seem to vary in location. This syndrome shows multiple congenital anomalies with severe mental retardation, characteristic craniofacial change and absence of other gross external abnormalities. The craniofacial dysmorphism includes frontal bossing and temporal indentation, square face, marked hypertelorism, thick and short nose, full lips and a large mouth with downturned corners. Congenital heart defect, most frequently ASD and VSD, are found in most patients. In the majority of patients, the 3p2 duplication is the unbalanced product of a parental autosomal translocation involving 3p2 and another chromosome. We report a case of female baby who has facial dysmorphism, ASD and hyptonia and was found to have 3p2 duplidation (46XX-9, +der(9)t (3:9)(p23:p24)) by chromosomal analysis. Also we found her father was a carrier of blanced translocation of 3p2 and chromosome 9p (46XY, t(3:9)(p23:p24)).
Chromosome Duplication ; Fathers ; Female ; Heart Defects, Congenital ; Humans ; Hypertelorism ; Intellectual Disability ; Lip ; Mouth ; Nose ; Parents ; Trisomy*

OBJECTIVETo assess the value of noninvasive fetal trisomy testing based on massively parallel sequencing for the detection of chromosomal deletions and duplications.

METHODSPeripheral venous blood was taken from pregnant women with a high risk. Free fetal DNA in maternal plasma was used for library construction and subjected to massively parallel sequencing. Positive results were validated by traditional karyotype analysis or array-CGH. Phenotype of the fetus was observed through patholoical evaluation.

RESULTSThirteen out of 629 cases were suspected to harbor chromosomal aberrations, which included 9 aneuploid cases and 4 structural abnormalities. The latter included one case with dup (18q) (14.35 Mb), del (18q) (21.34 Mb), one with dup (3q) (35 Mb) and two with dup (7q) (7.0 Mb). Among these, dup (18q ) (14.35 Mb), del (18q) (21.34 Mb) and dup (3q) (35 Mb) were confirmed by karyotype analysis and patholoical evaluation. However, the two cases with dup (7q) were validated by karyotype analysis and array-CGH as false positives. The phenotype with the fetus also presented as normal.

CONCLUSIONThe introduction of maternal plasma sequencing for prenatal testing could dramatically improve the efficiency for detecting large, partial (> 10 Mb) chromosomal deletions and duplications.

Adult ; Chromosome Deletion ; Chromosome Duplication ; Comparative Genomic Hybridization ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genotype ; Humans ; Pregnancy ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Sequence Analysis, DNA ; methods ; Trisomy

Habitual abortion or recurrent pregnancy loss has been defined as the occurrence of three or more clinically recognized pregnancy loss before 20 gestational weeks. A recognized cause of habitual abortion is a genetic abnormality, and karyotyping of couples will reveal that about 5% have some abnormality, most frequently a balanced translocation. However, it has been reported that duplication of chromosome is a rare condition associated with habitual abortion. We have experienced a case of chromosomal duplication 9q as polymorphism found in fetus of the patient with habitual abortion. Father of the fetus also has the same chromosomal duplication on 9q. This represents familial polymorphism and it is very rare variant. We presented with brief review of literatures.
Abortion, Habitual* ; Chromosome Duplication ; Family Characteristics ; Fathers ; Female ; Fetus* ; Humans ; Karyotyping ; Pregnancy

Theoretically, microduplication of chromosomal region 22q11.2, which is rich in segmental duplications, should be as frequent as microdeletions of the same region. Preliminary analysis on the rarity of reports for 22q11.2 microduplication in the literature has suggested that, for the discovery of 22q11.2 microduplication, there has been a lack of sensitivity for routine diagnostic techniques such as karyotyping, PCR and FISH. On the other hand, the diverse anomalies and extremely variable phenotypes of carriers also implied great difficulties one has to face upon clinical consultation. Genetics as well as clinical problems in connection with 22q11.2 microduplication has vividly illustrated the great challenge for the interpretation of genotype-phenotype correlation, and thereby posed yet another gray zone for clinical genetics research.
Chromosome Deletion ; Chromosomes, Human, Pair 22 ; genetics ; Gene Duplication ; Genetics, Medical ; Humans ; Phenotype

OBJECTIVETo use array comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to detect unbalanced rearrangements in 4 cases suspected to have chromosome disease but were undetected with conventional karyotype analysis, and to assess the applicability of array-CGH and MLPA for detection of unbalanced translocation.

METHODSGenomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.

RESULTSAll of the cases were identified to have unbalanced translocations by array-CGH analysis, among which 3 were consistent with subtelomeric MLPA analysis. For the remaining one, its chromosomal abnormality was not detected by MLPA as the imbalance has occurred outside of target regions.

CONCLUSIONBoth array-CGH and MLPA techniques can complement conventional karyotyping for detecting unbalanced translocations. The combination features both high resolution and efficiency for clinical use.

Adult ; Child ; Chromosome Deletion ; Chromosome Duplication ; Comparative Genomic Hybridization ; Humans ; Infant ; Karyotyping ; Male ; Multiplex Polymerase Chain Reaction ; Phenotype ; Translocation, Genetic

OBJECTIVE: To explore the molecular mechanism of a girl with developmental delay and intellectual disability. METHODS: Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions. RESULTS: No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child. CONCLUSION The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.
Child ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 17 ; genetics ; Comparative Genomic Hybridization ; Female ; Humans ; Karyotyping ; Smith-Magenis Syndrome ; genetics

Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here, we report the molecular cytogenetic findings and clinical manifestations observed in an infant with 46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat. The infant was delivered by Cesarean section at the 33rd week of gestation because pleural effusion and polyhydramnios were detected on ultrasonography. At birth, the infant showed no malformation or dysfunction, except for a preauricular skin tag. Array comparative genomic hybridization analysis of neonatal peripheral blood samples showed a gain of 38 Mb on 4q31.3-qter and a loss of 3 Mb on 4p16.3, and these results were consistent with WHS. At the last follow-up at 8 months of age (corrected age, 6 months), the infant had not achieved complete head control.
*Chromosome Deletion ; *Chromosome Duplication ; *Chromosome Inversion ; *Chromosomes, Human, Pair 4 ; Comparative Genomic Hybridization ; Female ; Gestational Age ; Humans ; Infant ; Pleural Effusion/ultrasonography ; Polyhydramnios/ultrasonography ; Pregnancy ; Wolf-Hirschhorn Syndrome/*genetics

OBJECTIVETo determine the value of spectral karyotyping (SKY) to identify the complex chromosome aberration.

METHODSFour cases were selected that can not be identified by standard cytogenetic techniques. The chromosome specimens were detected by the routine SKY method, and the results were analyzed by the SKY View software.

RESULTSBy using SKY a case of complex chromosome rearrangements and two cases of chromosome duplication were identified. However it could not identify the chromosome inversion and the breakpoint of chromosome aberration.

CONCLUSIONSKY may be a valuable tool in identification of complex chromosome translocation, rearrangement, minute aberration and unknown derivative chromosomes. Though SKY can not replace the standard cytogenetic techniques, but it will be the benefit supplementary.

Adult ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; diagnosis ; genetics ; Female ; Gene Duplication ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Reproducibility of Results ; Sensitivity and Specificity ; Spectral Karyotyping ; methods ; Translocation, Genetic

BACKGROUNDLung cancer has become the leading cause of death in many regions. Carcinogenesis is caused by the stepwise accumulation of genetic and chromosomal changes. The aim of this study was to investigate the chromosome and gene alterations in the human lung adenocarcinoma cell line OM.

METHODSWe used Giemsa banding and multiplex fluorescence in situ hybridization focusing on the human lung adenocarcinoma cell line OM to analyze its chromosome alterations. In addition, the gains and losses in the specific chromosome regions were identified by comparative genomic hybridization (CGH) and the amplifications of cancer-related genes were also detected by polymerase chain reaction (PCR).

RESULTSWe identified a large number of chromosomal numerical alterations on all chromosomes except chromosome X and 19. Chromosome 10 is the most frequently involved in translocations with six different interchromosomal translocations. CGH revealed the gains on chromosome regions of 3q25.3-28, 5p13, 12q22-23.24, and the losses on 3p25-26, 6p25, 6q26-27, 7q34-36, 8p22-23, 9p21-24, 10q25-26.3, 12p13.31-13.33 and 17p13.1-13.3. And PCR showed the amplification of genes: Membrane metalloendopeptidase (MME), sucrase-isomaltase (SI), butyrylcholinesterase (BCHE), and kininogen (KNG).

CONCLUSIONSThe lung adenocarcinoma cell line OM exhibited multiple complex karyotypes, and chromosome 10 was frequently involved in chromosomal translocation, which may play key roles in tumorigenesis. We speculated that the oncogenes may be located at 3q25.3-28, 5p13, 12q22-23.24, while tumor suppressor genes may exist in 3p25-26, 6p25, 6q26-27, 7q34-36, 8p22-23, 9p21-24, 10q25-26.3, 12p13.31-13.33, and 17p13.1-13.3. Moreover, at least four genes (MME, SI, BCHE, and KNG) may be involved in the human lung adenocarcinoma cell line OM.

Adenocarcinoma ; genetics ; Cell Line, Tumor ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Duplication ; Comparative Genomic Hybridization ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Lung Neoplasms ; genetics ; Polymerase Chain Reaction ; Translocation, Genetic