Cytogenetic findings in 125 patients with Turner's syndrome and abnormal karyotypes. 1977

R Coco, and C Bergada

A total of 186 girls with clinical signs of Turner's syndrome were cytogenetically studied. From this total, 125 (67.20%) had abnormal and 61 (32.80%) normal karyotypes. Among the patients with abnormal karyotypes, 68 had negative sex chromatin (54.40%) and 57 positive sex chromatin (45.60%). Chromosomal studies in chromatin-negative patients allowed us to detect 44 karyotypes 45,X, 20 structural X anomalies (14 rings, 4 deletions for the long arm, 2 deletions for the short arm) and 4 patients with 45,X/46,XY mosaics, while chromosomal studies in chromatin-positive patients revealed 57 abnormal and 61 normal karyotypes. The isochromosome for the long X arm was more frequent, either in pure line or in mosaicism, than the 45,X/46,XX mosaic. From the 61 patients with normal karyotypes, 21 had significative short stature (under the 3rd percentile) as the main feature, with the bone age equal to, or advanced for chronological age. The remaining 40 patients had, in addition, other typical features of Turner's syndrome. Although the possibility of a not detected mosaic cannot be discarded, its absence would suggest a genetic etiology.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008423 Maternal Age The age of the mother in PREGNANCY. Age, Maternal,Ages, Maternal,Maternal Ages
D010331 Paternal Age Age of the biological father. Age, Paternal,Ages, Paternal,Paternal Ages
D011796 Quinacrine An acridine derivative formerly widely used as an antimalarial but superseded by chloroquine in recent years. It has also been used as an anthelmintic and in the treatment of giardiasis and malignant effusions. It is used in cell biological experiments as an inhibitor of phospholipase A2. Mepacrine,Acrichine,Atabrine,Atebrin,Quinacrine Dihydrochloride,Quinacrine Dihydrochloride, Dihydrate,Quinacrine Dihyrochloride, (R)-Isomer,Quinacrine Dihyrochloride, (S)-Isomer,Quinacrine Dimesylate,Quinacrine Hydrochloride,Quinacrine Monoacetate,Quinacrine Monohydrochloride,Quinacrine Monomesylate,Quinacrine, (+-)-Isomer,Quinacrine, (R)-Isomer,Quinacrine, (S)-Isomer,Dihydrochloride, Quinacrine,Dimesylate, Quinacrine,Hydrochloride, Quinacrine,Monoacetate, Quinacrine,Monohydrochloride, Quinacrine,Monomesylate, Quinacrine
D001973 Bromodeoxyuridine A nucleoside that substitutes for thymidine in DNA and thus acts as an antimetabolite. It causes breaks in chromosomes and has been proposed as an antiviral and antineoplastic agent. It has been given orphan drug status for use in the treatment of primary brain tumors. BUdR,BrdU,Bromouracil Deoxyriboside,Broxuridine,5-Bromo-2'-deoxyuridine,5-Bromodeoxyuridine,NSC-38297,5 Bromo 2' deoxyuridine,5 Bromodeoxyuridine,Deoxyriboside, Bromouracil
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000166 Acridines Compounds that include the structure of acridine. Acridine
D001399 Azure Stains PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains. Giemsa Stain,Giemsa-11,Giemsa 11,Stain, Giemsa,Stains, Azure

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