1/5. A case of ring 18 chromosome in a sibship with multiple spontaneous abortions.We report the study of a female infant with physical stigmata suggestive of 18 chromosomes deletion, in whom cytogenetic studies revealed a 446,XX,r(18) complement. She was the last born of a sibship of seven composed otherwise by three spontaneous abortions, two perinatal deaths and one living female. The chromosome studies of the parents were normal. The cytogenetic finding and the phenotype are discussed in relation to the 18 chromosome deletion syndromes. The phenotype of the propositus would indicate that her ring 18 is significantly deficient of long arm segment. The apparent sporadic occurrence of this chromosomal anomaly in this family is discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/5. prenatal diagnosis of a familial complex chromosomal rearrangement involving chromosomes 5, 10, 16 and 18.We report one case of a familial complex chromosomal rearrangement (CCR) involving four different chromosomes 5, 10, 16 and 18. The CCR was detected prenatally at 20 weeks' gestation because of advanced maternal age and history of recurrent miscarriages. cytogenetic analysis of cultured amniotic fluid cells with GTG banding showed a 46,XX,t(5;16;10;18)(q13;q22;q11.2;q21) karyotype. Parental cytogenetic study revealed that the mother has the same CCR. RBG banding, high resolution banding and fluorescence in situ hybridization (FISH) were used to characterize further and confirm the conventional banding data. No physical abnormalities were shown in the targeted fetal ultrasonography examination. The parents decided to continue the pregnancy. The child is now 2 years old and has neither congenital anomalies nor evidence of delayed psychomotor development. The fetal targeted ultrasound and FISH analysis helped us reassure fetal status.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/5. Successful pregnancy after preimplantation genetic diagnosis in a female with Robertsonian translocation.Preimplantation genetic diagnosis (PGD) is an alternative option for couples with chromosome abnormalities. A 34-year-old woman with balanced Robertsonian translocation [(45, XX, der(13; 14)(q10; q10)] requested PGD due to recurrent spontaneous abortion. Embryos of good quality were biopsied on day 3 post-oocyte retrieval. The aspirated blastomeres were fixed and analyzed using fluorescence in situ hybridization. In the first cycle, 2 unaffected embryos were transferred back without success. No unaffected embryo was available in the second cycle. On day 5 in the third cycle, 2 unaffected embryos were transferred resulting in a twin pregnancy. amniocentesis confirmed the diagnosis. At the gestational age of 35 weeks, 2 healthy girls were born via cesarean section. Postnatal physical examination found no evidence of major abnormalities.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/5. A subtelomeric translocation apparently implied in multiple abortions.PURPOSE: Chromosomal alterations are a major cause of clinically recognized abortions. So cryptic chromosomal rearrangements could be responsible for recurrent miscarriages. methods: The study was performed on 18 clinically normal couples who had four or more spontaneous abortions and whose karyotypes were found to be normal. fluorescence in situ hybridization with specific probes of subtelomeric regions was used after optimizing the amount of probe. RESULTS: Only one subtelomeric translocation was detected between 2p and 3p chromosomes, in a female with seven miscarriages. CONCLUSION: Subtelomeric rearrangements are infrequently related to multiple miscarriages. This kind of studies can be considered specially worthy when a couple have had not only abortions but also offspring with mental and physical anomalies. Thus, possible initial studies should focus on affected children or fetus.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/5. A variant chromosome 17 in a mother with repeated abortions and a 46, XY/47, XXY Klinefelter son.A female with a satellited chromosome 17 is presented. She had suffered repeated abortions and later gave birth to a 46,XY/47,XXY Klinefelter boy. The significance of the variant chromosome 17 in the etiology of the mother's reproductive failure is discussed. The mental and physical development of her now 8-year-old 46,XY/47,XXY son has been checked regularly since birth. The boy showed a significant deviation in behaviour pattern and development of body habitus already from early infancy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |