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Results for “Chromosome Inversion”

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At least 37 records · Page 2Linked to original sources
PubMed1979

Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inversion X chromosome.

A 31-year-old woman of short stature with severe oligomenorrhea was found to carry a duplication-deficiency X chromosome, 46,X,rec(X)dup q,inv(X)(p22q11), inherited from her mother who carried a pericentric inversion X chromosome, 46,X,inv(X)(p22q11). By a combination of autoradiography and BUdR incorporation, the duplication-deficiency X chromosome was always found to be the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells were seen to have bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were inactivated at random.

Adult↗
PubMed1979

Pericentric inversions of chromosome number 9: benign or harmful?

Pericentric inversions of chromosome number 9 have been studied in 4 different probands: a normal female with designation 46,XX,inv(9)(p12q13); a male with Down syndrome designated as 47,XY,+21,inv(9))p13q13); a premature infant with multiple, congenital malformations who was 46,XX,inv(9)(p12q21), and a Down syndrome proband with 47,XYqs,+21,inv(9)(p13q21). All 4 cases were shown to be inherited based on family studies. These families are discussed with reference to the literature as to what possible effect this structural change could have on the reproductive capability of a normal carrier and what guidelines are available for counseling such a carrier.

Abnormalities, Multiple↗
PubMed1977

[Three families with pericentric inversion of chromosome 9].

The authors describe three unrelated families who had a pericentric inversion of chromosome 9. Three female patients and 9 out of 16 members of their families were heterozygous carriers of the same chromosomal recombination. This anomaly has been found with a frequency of about 1% in our laboratory. The different clinical and cytogenetic implications are briefly discussed.

Adolescent↗
PubMed1977

Inherited pericentric inversion of chromosome no. 2 with Robertsonian translocation (13q 14q) resulting in trisomy for chromosome 13q.

This report includes a patient with an inherited pericentric inversion of chromosome No. 2 in addition to a Robertsonian translocation resulting in trisomy for chromosome 13q. The chromosomal constitution of the proband was 46,XX,inv(2) (pter leads to p11 : : q14 leads to p11 : : q14 leads to qter); t(13,14) (13qter leads to 13p11 : : 14q11 leads to 14qter). Sequential QFQ, RFA and GTG banding techniques were employed on the chromosomes of all family members. The chromosomal constitutions of the father and his first child were normal while the mother had an inversion of chromosome No. 2 [46,XX,inv(2) (pter leads to p11 : : q14 leads to p11 : : q14 leads to qter)]. The proband inherited this abnormal chromosome. In addition, she had a de novo Robertsonian translocation involving chromosomes 13q and 14q resulting in trisomy of chromosome 13q.

Abnormalities, Multiple↗
PubMed1992

[Inversion of chromosome 16 observed in acute myeloblastic leukemia (M2) with biphenotypic surface markers lacking monocytosis and eosinophilia].

Inversion of chromosome 16 was found in a 73-year-old female with acute myeloblastic leukemia (FAB:M2). Complete remission was achieved by combined chemotherapy (DNR, Ara-C, 6-MP, Prednisolone), but she relapsed 6 months later without CNS involvement and died of respiratory failure presumably due to cerebrovascular accident during remission reinduction chemotherapy. Biphenotypic surface markers (CD2+ and CD13+) were observed on relapse. Eosinophilia was not observed throughout. Our patient and the other reported case suggest that biphenotypism and the lack of eosinophilia and monocytosis in inv (16) leukemia may be correlated with a poor prognosis.

Aged↗
PubMed1976

Pericentric inversion of chromosome No. 8.

Chromosome studies of an infant with multiple malformations were made by means of the trypsin-Giemsa banding as well as conventional Giemsa staining methods. The propositus showed 46, XY +3, -C, and it was indicated that the abnormal metacentric chromosome was induced by the pericentric inversion of chromosome No. 8, in which chromosomal breakage had occurred most likely at the bands 8p23 and 8q23. The probable formula of the inversion is 46, XY, inv (8) (p23q23). Karyotypic analyses of the parents revealed no abnormalities, and the inversion therefore occurred spontaneously. Clinical features of the porpositus are postulated to be caused by a loss of very small portions of the chromosomal material with the occurrence of the pericentric inversion.

Abnormalities, Multiple↗
PubMed1992

Pericentric inversions of chromosome 9 in Taiwanese fetuses.

Using trypsin-Giemsa banding, a total of 1,350 unrelated Chinese fetuses were studied for pericentric inversion of chromosome 9 [inv(9) (p11; q13)]. Sixteen cases (1.2%) were found to have this variant. The prevalence was higher than that in a previous report on Asians. All the fetuses with inv(9) were born with a normal phenotype.

Chromosome Inversion↗