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Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review

Taiwanese Journal of Obstetrics and Gynecology, 2019
Objective: We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature.
Ming-Chao Huang, Shin-Wen Chen, Tzu-Yun Chuang   +2 more
exaly   +2 more sources

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Mosaic trisomy 15 and hemihypertrophy

Annales de Génétique, 2001
We report a case of mosaic trisomy 15 with mental retardation, facial dysmorphism, and hemihypertrophy, but no manifestations of Prader-Willi or Angelman syndromes. Mosaic trisomy 15 (11%) was discovered at the amniocentesis. Uniparental disomy for chromosome 15 was excluded by molecular analysis. Post-natal blood karyotype and examination were normal.
M, Gérard-Blanluet, A, Elbez, A, Bazin, C, Danan, A, Verloes, J C, Janaud   +5 more
openaire   +2 more sources

Mosaic trisomy 15 in a liveborn infant

American Journal of Medical Genetics Part A, 2015
With only a small number of cases in the medical literature, mosaic trisomy 15 in liveborn infants is very rare. Despite its rarity, similar features among individuals have been described, including intrauterine growth retardation, craniofacial abnormalities and facial dysmorphisms, cardiac disease, and other organ anomalies.
Jacob, McPadden, Benjamin M, Helm, Brooke B, Spangler, Leslie P, Ross, Debra B, Boles, Samantha A, Schrier Vergano   +5 more
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Mosaicism for Trisomy 17–18 and Trisomy 13–15 in Man

Nature, 1965
TRISOMY for two chromosomes of the normal chromosome complement has been found in several human subjects. The chromosomes most often involved in these double trisomic states have been the X-chromosome1,2 and chromosomes of the pairs 13–153, 17–181,4 and 212–4.
A G, Baikie, O M, Garson, R G, Birrell
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Cebocephalus Associated With Trisomy 13-15 Mosaicism

Archives of Neurology, 1978
A case of cebocephalus occurred in association with a 10% mosaicism of trisomy 13-15. Both parents of the affected child had normal karyotypes. Cebocephalus has been associated with abnormal chromosomes such as a deletion of the short arm of chromosome 18 as well as the trisomy 13-15.
V, Lorch, R, Fojaco, C R, Bauer
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PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM

Prenatal Diagnosis, 1996
Maternal uniparental disomy 15 (UPD15), responsible for approximately 25 per cent of Prader-Willi syndrome cases, is usually caused by maternal meiosis I non-disjunction associated with advanced maternal age. These cases may initially be detected as mosaic trisomy 15 during routine prenatal diagnostic studies.
S L, Christian, A C, Smith, M, Macha, S H, Black, F F, Elder, J M, Johnson, R G, Resta, U, Surti, L, Suslak, M S, Verp, D H, Ledbetter   +10 more
openaire   +2 more sources

Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaic trisomy 12 at amniocentesis associated with a favorable pregnancy outcome

Taiwanese Journal of Obstetrics and Gynecology, 2017
[[abstract]]Objective We present prenatal diagnosis of low-level mosaic trisomy 12. Case Report A 40-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+12[5]/46,XX[24 ...
Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang   +2 more
exaly   +3 more sources

Atypical presentation of the Prader–Willi syndrome. Mosaic Trisomy 15?

Annales de Génétique, 2002
We report a female with Prader-Willi syndrome and hemihypertrophy. We discuss the possibility of an undetected mosaicism for trisomy 15 explaining this unusual feature.
Annick, Vogels, Maureen, Holvoet, Mie-Jef, Descheemaeker, Jean-Pierre, Fryns, Koen, Devriendt   +4 more
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Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation

Clinical Dysmorphology, 2004
We describe a girl with short stature, mild mental retardation, hemihypotrophy, atrial septal defect I, bilateral branchial cleft fistulas and abnormal skin pigmentation. Growth hormone deficiency and other frequent causes of short stature were excluded. Blood karyotype was investigated twice.
Sabine A, Knauer-Fischer, Annette, Richter-Unruh, Beate, Albrecht, Gabriele, Gillessen-Kaesbach, Berthold P, Hauffa   +4 more
openaire   +2 more sources

Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

American Journal of Medical Genetics, 1996
We describe a liveborn infant with uniparental disomy (UPD) with trisomy 15 mosaicism. Third trimester amniocentesis yielded a 46,XX/47,XX,+15 karyotype. Symmetrical growth retardation, distinct craniofacies, congenital heart disease, severe hypotonia and minor skeletal anomalies were noted. The infant died at 6 weeks of life.
J M, Milunsky, H E, Wyandt, X L, Huang, X Z, Kang, E R, Elias, A, Milunsky   +5 more
openaire   +2 more sources