Fetal cystic hygroma in the first trimester led to diagnosis of partial trisomy 22
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چکیده
منابع مشابه
RECONSIDERATION OF THE CAT EYE SYNDROME: RECIPROCAL TRANSLOCATION T(1l,22) LEADING TO PARTIAL TRISOMY OF llq AND 22.
We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. We emphasize the importance of family study in such cases.
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We report a case of fetal nuchal cystic hygroma associated with aortic coarctation and trisomy 21. A stillborn baby, delivered at 15 weeks and 5 days of gestation, had a huge nuchal cystic hygroma. Autopsy revealed aortic coarctation of the periductal type with patent ductus arteriosus, endocardial cushion defect and left ventricular hypoplasia. Trisomy 21 was evident by karyotyping. Macroscopi...
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A chromosomal disorder caused by the presence of all or part of an extra 21st chromosome is known as the Down syndrome, or trisomy 21, or trisomy G. In the last fifteen years it has become possible to observe these features by ultrasound examination in the third month of intrauterine life. About 75% of trisomy 21 fetuses have absent nasal bone. In the present work, neural network schemes that h...
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Posterior midline cervical cystic hygromas (PMC) are frequently found associated with chromosomal aberrations and usually do not survive. The present report illustrates diagnosis of this condition by sonography in an 18 weeks old fetus and an amniocentesis revealed 45 x0 karyotype and increased concentration of alpha-fetoproteins. Pregnancy was terminated in view of Turner's syndrome. The etiol...
متن کاملFetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.
Prenatal diagnosis was performed in a woman whose previous pregnancy resulted in a girl with probable Down syndrome who died soon after delivery. The mother was found to be a carrier of a reciprocal balanced translocation between chromosomes 21 and 22, and the fetus was found to have an unbalanced translocation involving chromosomes 21 and 22: 46,XX, -22, +t(21;22)(q22;q11)(21 pter leads to 21q...
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ژورنال
عنوان ژورنال: SAGE Open Medical Case Reports
سال: 2021
ISSN: 2050-313X,2050-313X
DOI: 10.1177/2050313x21991000