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Publikováno v:
Genetic counseling (Geneva, Switzerland). 20(4)
Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16: A 37 year old pregnant woman was referred for amniocentesis at 18 weeks of gestation due to advanced maternal age and abnormal serum biochemistry. A nonsa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::724599cf7ef0719aa157ed6b71f72d2c
https://pubmed.ncbi.nlm.nih.gov/20162867
https://pubmed.ncbi.nlm.nih.gov/20162867
Autor:
Z, Cetin, S, Berker Karaüzüm, S, Yakut, E, Mihçi, A, Baumer, E, Wey, S, Taçoy, G, Bağci, G, Lüleci
Publikováno v:
Genetic counseling (Geneva, Switzerland). 16(3)
Until recently, presence of de novo marker or derivative chromosomes was quite problematic for genetic counseling especially in prenatal diagnosis, because characterization of marker and derivative chromosomes by conventional cytogenetic techniques w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ef97f6af16535d1880a10bbec6c327c7
https://pubmed.ncbi.nlm.nih.gov/16259323
https://pubmed.ncbi.nlm.nih.gov/16259323
Publikováno v:
Genetic counseling (Geneva, Switzerland). 16(2)
A case with de novo interstitial deletion of chromosome 7q21.1-q22: A patient with multiple congenital anomalies was found to have a de novo proximal interstitial deletion of chromosome 7q21.1-q22. The patient was 10.5 years of age, and manifestation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ab9a201110b668f007882aadb9fe439
https://pubmed.ncbi.nlm.nih.gov/16080295
https://pubmed.ncbi.nlm.nih.gov/16080295
Publikováno v:
Clinical genetics. 61(1)
Fluorescence in situ hybridization analysis using telomere specific probes has been used to detect cryptic translocations in the chromosomal telomeric regions. This study was performed in five clinically normal couples who have had five or more spont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37543936811721969c847a1cca32e498
https://pubmed.ncbi.nlm.nih.gov/11903351
https://pubmed.ncbi.nlm.nih.gov/11903351
Publikováno v:
Annales de genetique. 39(2)
We describe three unrelated families with an increased frequency of cells with premature centromere division (PCD) in all of the chromosomes. There were eight phenotypically normal individuals with PCD in these families. Familial PCD phenomenon is di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::099cf1c575d264a6784d4c0f9b4eb397
https://pubmed.ncbi.nlm.nih.gov/8766139
https://pubmed.ncbi.nlm.nih.gov/8766139
Autor:
W P, Robinson, F, Bernasconi, S, Basaran, M, Yüksel-Apak, G, Neri, F, Serville, P, Balicek, R, Haluza, L M, Farah, G, Lüleci
Publikováno v:
American journal of human genetics. 54(2)
One t(14q14q), three t(15q15q), two t(21q21q), and two t(22q22q) nonmosaic, apparently balanced, de novo Robertsonian translocation cases were investigated with polymorphic markers to establish the origin of the translocated chromosomes. Four cases h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::206fbdad4766dd1429811f190c581302
https://pubmed.ncbi.nlm.nih.gov/8304346
https://pubmed.ncbi.nlm.nih.gov/8304346
Publikováno v:
Acta haematologica. 92(1)
Monosomy 7 myelodysplasia is a rare hematological entity and is associated with morphological abnormalities in bone marrow and peripheral smear, and poor prognosis in children. We describe 2 children with infantile monosomy 7 myelodysplasia which evo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::505d9a16bbf2090b7094c2041c1e1a01
https://pubmed.ncbi.nlm.nih.gov/7985480
https://pubmed.ncbi.nlm.nih.gov/7985480
Publikováno v:
The Turkish journal of pediatrics. 34(4)
Cytogenetic abnormalities are rarely found in patients with juvenile chronic myelogenous leukemia (JCML). In patients with chromosomal abnormalities, chromosomes 7 and 8 are usually involved. A case of JCML with 47 XXX and a 46 XX karyotype is descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::271ad933a47e3be3afa0a0738e459937
https://pubmed.ncbi.nlm.nih.gov/1306346
https://pubmed.ncbi.nlm.nih.gov/1306346
Publikováno v:
Japanese journal of ophthalmology. 36(1)
No erythrocyte glucose-6-phosphate dehydrogenase (G6PD)-deficient person was detected among 90 male patients with congenital color blindness (CCB) diagnosed at the Ophthalmology Clinic of our Hospital. Eighteen complete G6PD-deficient subjects had no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::049ff686d9690f14f58893d6498cf80b
https://pubmed.ncbi.nlm.nih.gov/1635293
https://pubmed.ncbi.nlm.nih.gov/1635293