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Chromosomal Microarray Analysis and Karyotype Analysis for Prenatal Diagnosis of Fetuses With Abnormal Ultrasound Soft Markers.

OBJECTIVE: To explore and evaluate the value of chromosomal microarray analysis (CMA) in fetuses with abnormal ultrasound soft markers. METHODS: A retrospective study was conducted on 193 fetuses with abnormal ultrasound soft markers who received prenatal diagnosis at Meizhou People's Hospital, between October 2022 and February 2024. Genetic detection of fetal specimens obtained by ultrasound-guided puncture was carried out. The detection rates of karyotype analysis and CMA for chromosomal abnormalities in different ultrasonic abnormalities were analyzed. RESULTS: Of the 193 fetuses, there w…

Response of children with Turner syndrome with different types of karyotype abnormalities to growth hormone treatment.

PURPOSE: Short stature is the main characteristic of Turner syndrome (TS) patients and growth hormone (GH) therapy has been essential for achieving the final adult height (Ht). In the present study, the response of TS patients with different types of karyotype abnormalities to GH therapy was analyzed. METHODS: The clinical parameters of 194 TS patients registered in the LG Growth Study were retrospectively reviewed. Data for 4 groups of subjects were obtained as follows: monosomy X (n=56); X structural abnormality (n=26); X mosaicism without structural abnormality (n=41); X mosaicism with str…

Cross-species chromosome painting and repetitive DNA mapping illuminate the karyotype evolution in true crocodiles (Crocodylidae).

Crocodilians have maintained very similar karyotype structures and diploid chromosome numbers for around 100 million years, with only minor variations in collinearity. Why this karyotype structure has largely stayed unaltered for so long is unclear. In this study, we analyzed the karyotypes of six species belonging to the genera Crocodylus and Osteolaemus (Crocodylidae, true crocodiles), among which the Congolian endemic O. osborni was included and investigated. We utilized various techniques (differential staining, fluorescence in situ hybridization with repetitive DNA and rDNA probes, whole …

[Genetic study of a trisomy 13 fetus with a false-negative karyotype by chorionic villi analysis].

OBJECTIVE: To explore the mechanism of a false-negative result from karyotyping of chorionic villi cells for a trisomy 13 fetus featuring multiple malformations. METHODS: For a fetus with multiple malformations by ultrasonography and a 46,XY karyotype by chorionic villi analysis, amniocytes were further analyzed with quantitative fluorescence PCR (QF-PCR), G-banded karyotyping and chromosomal microarray analysis (CMA). Meanwhile, non-invasive prenatal testing (NIPT) was conducted on peripheral blood sample from the pregnant woman to determine the chromosomal composition of cytotrophoblast. Af…

Rare Case of Diffuse Large B-Cell Lymphoma Mimicking Acute Monocytic Leukemia, Associated with Complex Karyotype.

OBJECTIVE: Diffuse Large B-Cell Lymphoma (DLBCL), NOS, constitutes 25-35% of adult non-Hodgkin lymphomas in developed countries, and a highe … sis of the BM cells revealed a 46,XX, trp(1)(q21q32),del(7)(q32q36),t(9;14)(p13;q32) [4]/46,XX [16] karyotype. The patient was diagnosed with EBV-positive DLBCL, NOS based on the combination of lymph node biopsy, clinical, cytological, immunophenotypic, and cytogenetic analyses. CONCLUSION: To date, no case reports of a patient diagnosed with DLBCL mimicki …

Clinical aspects of 49 infertile males with 45,X/46,XY mosaicism karyotype: A case series.

Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance, testis size and volume, external genitalia, spermogram and hormonal levels, testis pathology, Y chr…

An mRNA expression signature for prognostication in de novo acute myeloid leukemia patients with normal karyotype.

Although clinical features, cytogenetics, and mutations are widely used to predict prognosis in patients with acute myeloid leukemia (AML), further refinement of risk stratification is necessary for optimal treatment, especially in cytogenetically normal (CN) patients. We sought to generate a simple gene expression signature as a predictor of clinical outcome through analyzing the mRNA arrays of 158 de novo CN AML patients. We compared the gene expression profiles of patients with poor response to induction chemotherapy with those who responded well. Forty-six genes expressed differentially be

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… Overexpression of the ETS-related gene, ERG, predicts a worse outcome in acute myeloid leukemia with normal karyotype: a Cancer and Leukemia Group B study. J Clin Oncol. 2005;23:9234–9242. doi: 10.1200/JCO.2005.03.6137. 10. … Identification of new classes among acute myelogenous leukaemias with normal karyotype using gene expression profiling. Oncogene. 2004;23:9381–9391. doi: 10.1038/sj.onc.1207910. 12. …

Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report.

Holoprosencephaly (HPE), a complex brain malformation resulting from incomplete cleavage of the prosencephalon into distinct cerebral hemispheres, is rare in newborns. Two preterm male neonates were born at 34 weeks' and five days' gestation in the monochorionic diamniotic twin pregnancy complicated with pre-eclampsia and intrahepatic cholestasis of pregnancy, and one of them was prenatally diagnosed with alobar HPE by ultrasonography with frontal bossing, hydrocephaly, hypotelorism of eyes, flat nasal bridge, macroglossia, and cheilo/palatoschisis at birth. Karyotyping by G-banding of amnioce

[A case of Richter syndrome transformed from chronic lymphocytic leukemia with karyotype aberration of trisomy 12].

This study was aimed to investigate the relationship between Richter's syndrome (RS) transformation and clinical characteristics as well as karyotype of patient with chronic lymphocytic leukemia (CLL). By the follow-up of a patient with CLL, the clinical characteristics, karyotype, treatment pattern and its effect, as well as disease progression were monitored regularly with serological test, flow cytometry and FISH technique. The results indicated that the patient typically presented with history of CLL at initial diagnosis, with expression of CD5(+), CD19(+) and CD23(+), Binet stage C, as we…

Anaplastic lymphoma kinase-positive large B-cell lymphoma with complex karyotype and novel ALK gene rearrangements.

Anaplastic lymphoma kinase-positive large B-cell lymphoma is a rare non-Hodgkin lymphoma that exhibits a characteristic immunoblastic/plasmablastic morphology and is frequently associated with t(2;17)(p23;q23) and expression of Clathrin-anaplastic lymphoma kinase fusion protein. Here, we report a refractory anaplastic lymphoma kinase-positive large B-cell lymphoma in a 49-year-old human immunodeficiency virus-positive man. The neoplastic cells expressed CD138, epithelial membrane antigen, CD45, and perforin, and showed a strong granular cytoplasmic anaplastic lymphoma kinase staining pattern.

HLA-DPB1 supertype-associated protection from childhood leukaemia: relationship to leukaemia karyotype and implications for prevention.

Most childhood B cell precursor (BCP) acute lymphoblastic leukaemia (ALL) cases carry the reciprocal translocation t(12;21)(p13;q22) ( approximately 25%), or a high hyperdiploid (HeH) karyotype (30%). The t(12;21) translocation leads to the expression of a novel fusion gene, TEL-AML1 (ETV6-RUNX1), and HeH often involves tri- and tetrasomy for chromosome 21. The presence of TEL-AML1+ and HeH cells in utero prior to the development of leukaemia suggests that these lesions play a critical role in ALL initiation. Based on our previous analysis of HLA-DP in childhood ALL, and evidence from in vitro…

Complex karyotype including chromosomal translocation (8;14) (q24;q32) in one case with B-cell prolymphocytic leukemia.

We report a case of a 64-year-old white female patient, who presented with symptomatic anemia (Hgb: 6.8g/dl), thrombocytopenia (platelets: 9 … in with low intensity. Cytogenetic study showed an abnormal clone of eight cells with the following karyotype: 45,X,-X,add(8)(p11.2),t(8;14)(q24;q32),add(20)ql3[8]/46,XX[12]. The relative rarity of B-PLL and the heterogeneity of clinical and laboratory parameters make it difficult to define the natural history and prognosis in all cases. The optimal treatme …

Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype.

OBJECTIVE: To define the prevalence of major cardiac defects according to nuchal translucency (NT) thickness at the 11 to 13 + 6-week scan in fetuses with normal karyotype. METHODS: Specialist fetal echocardiography was carried in 6921 fetuses with normal or presumed normal karyotype at a median gestation of 20 (range 12-35) weeks. The indications for fetal echocardiography were increased NT thickness (n = 3444), detailed second-trimester scan either for assessment of risk of chromosomal abnormalities (n = 2980) or previous or family history of fetal defects (n = 497). The cardiac defects wer…

Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations.

Karyotype-phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of 47,+21/46 mosaicism. Risk of abnormal outcome in pregnancies with less than 50% trisomic cells and greater than 50% trisomic cells were: 26% (4/15) versus 60% (6/10) for 47,+13/46, 52% (11/21) versus 75% (6/8) for 47,+18/46, 4.5% (6/132) versus 20% …

The DAPI banded karyotype of the domestic dog (Canis familiaris) generated using chromosome-specific paint probes.

The domestic dog (Canis familiaris) is widely used as a model in the study of human disease. However, many of the 78 chromosomes comprising the canine karyotype are extremely difficult to identify reliably by classical cytogenetics. This has been a major hindrance to molecular cytogenetic studies of this species. The Animal Health Trust and the Sanger Centre have developed a set of canine whole chromosome-specific fluorescence in situ hybridisation (FISH) probes (chromosome paints). We have used these chromosome paints to identify unequivocally each chromosome in a metaphase spread. An increas…

Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter's karyotype.

OBJECTIVE: To report the initiation of a pregnancy that was achieved by intracytoplasmic sperm injection (ICSI) with sperm from a patient with Klinefelter's syndrome. DESIGN: Case report. SETTING: University women's hospital IVF center. PATIENT(S): A couple with primary infertility and nonmosaic 47,XXY karyotype of the male partner. INTERVENTION(S): Intracytoplasmic sperm injection after ovarian stimulation and transvaginal ultrasound-guided oocyte pick-up with sperm from a hypergonadotropic man with a nonmosaic 47,XXY karyotype. MAIN OUTCOME MEASURE(S): Clinical pregnancy. RESULT(S): De…

C-erbB-2 amplification and expression in gestational trophoblastic disease correlates with DNA content and karyotype.

The subject of this retrospective study was to evaluate the potential benefit of the c-erbB-2 oncogene amplification and expression in 27 complete hydatidiform moles as well as in 9 cases of persistent gestational trophoblastic disease defined by elevated serum beta-human choriongonadotropin. The persistent cases were histopathologically classified as 5 complete hydatidiform moles, 3 invasive moles and 1 choriocarcinoma. In addition, we determined the DNA content and the karyotype of the sex chromosomes. The data were correlated with the histopathologic characteristics of gestational trophobla…

Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases.

Over 600 cases with a Y aneuploidy (other than non-mosaic 47,XYY) were reviewed for phenotype/karyotype correlations. Except for 93 prenatally diagnosed cases of mosaicism 45,X/46,XY (79 cases), 45,X/47,XYY (8 cases), and 45,X/46,XY/47,XYY (6 cases), all other cases were ascertained postnatally. Special emphasis was placed on structural abnormalities. This review includes 11 cases of 46,XYp-; 90 cases of 46,XYq- (52 cases non-mosaic; 38 cases 45,X mosaic); 34 cases of 46,X,r(Y) (9 cases non-mosaic and 25 cases 45,X mosaic); 8 cases of 46,X,i(Yp) (4 non-mosaic and 4 mosaic with 45,X); 12 cases …

Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study.

A 5-year prospective prenatal study in 151 pregnancies with 152 malformed fetuses detected by ultrasound was evaluated cytogenetically. Thirty-five fetuses (23%) had abnormal karyotypes. Specific anatomical fetal malformations identified by ultrasound increase the risk for fetal chromosome abnormalities. Risks of abnormal chromosomes in the fetus are present with both single and multiple anomalies including amniotic fluid volume although the risk is increased with specific anatomical systems and multiple malformations. An abnormal fetal karyotype was present in 17% with a single anatomical abn…