Prenatal Diagnosis of an Inherited Translocation Between Chromosomes No. 9 and 18
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12
Case Details. We report rare familial unbalanced translocation of chromosomes 7 and 12, which was diagnosed prenatally at 20+3 weeks of gestation. Woman's partner had been tested in the past and was found to be a carrier of a balanced translocation; his karyotype showed a balanced reciprocal translocation of 46, XY, t(7;12)(q34;q24,32). Partner's brother had an unbalanced form of the translocat...
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A 29 year old woman with history of G2P0+1 and shortening of limbs in past pregnancy referred herself to undergo a fetal anomaly scan at 18th week of gestation. The ultrasonographic imaging of the present pregnancy admeasuring the growth of 12-13 weeks at 18th week detected hydrocephalous condition with short limbs and kyphotic spine. This report aimed at looking for chromosomal aberrations in ...
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Significant advances in the prenatal diagnosis of hereditary skin disorders, including severe forms of epidermolysis bullosa (EB) and tyrosinase-negative oculocutaneous albinism (OCA1A), have been reviewed. Fetal skin biopsy during the second trimester of pregnancy has been utilized successfully for the prenatal diagnosis of EB and OCA1A. Recently, elucidation of the specific gene mutation in a...
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A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient's clinical phenotype largely resembled that of 3p- syndrome but her karyotype was more complicated than just los...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1973
ISSN: 1468-6244
DOI: 10.1136/jmg.10.1.65