Prenatal diagnosis of partial trisomy 22 derived from a maternal t(11;22) (q23;q11).

Sou, Soujin; Takabayashi, T.; Sasaki, Hiroyuki; Sasamoto, Kiyo; Shintaku, Yuichi; Li, Zi-Jeing; Ozawa, Nobuki; Yajima, Akira

doi:10.1620/tjem.153.389

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Cited by 4 publications

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“…Another prenatally diagnosed case of supernumerary der(22) has been reported by Sou et al (1987). Amniocentesis was performed in that case because the mother was known to have a balanced translocation, 46,XX,t(11;22)(q23;q11).…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Supernumerary Chromosome Derivative (22) due to Maternal Balanced Translocation in Association with Diaphragmatic Hernia: a Case Report

1997

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Supernumerary Chromosome Derivative (22) due to Maternal Balanced Translocation in Association with Diaphragmatic Hernia: a Case Report

1997

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“…5 There have been a few reports of prenatal diagnosis of partial trisomy 22. [6][7][8] Herein, we report a case of fetal cystic hygroma detected in the first trimester that led to the diagnosis of a partial trisomy 22.…”

Section: Introductionmentioning

confidence: 97%

Fetal cystic hygroma in the first trimester led to diagnosis of partial trisomy 22

Phupong

Erjongmanee

Tanbirojn

et al. 2021

SAGE Open Medical Case Reports

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Partial trisomy 22 is a rare condition that is found in live birth. In most cases, diagnosis of partial trisomy 22 was made after birth. Herein, we report a prenatal diagnosis of fetal partial trisomy 22 in a 28-year-old pregnant woman presented with fetal cystic hygroma. Structural abnormalities were detected at 16 weeks of gestation: left cleft lip and ventricular septal defect. The G-banding karyotype analysis and fluorescence in situ hybridization showed partial trisomy 22. It is recommended that pregnant women with fetal anomalies should have prenatal genetic diagnosis to ascertain whether the fetus has partial trisomy 22 or other rare chromosomal abnormalities.

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Prenatal diagnosis of Emanuel syndrome – case series and review of the literature

Piwowarczyk

Massalska

Obodzińska

et al. 2022

Journal of Obstetrics and Gynaecology

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Prenatal diagnosis of partial trisomy 22 derived from a maternal t(11;22) (q23;q11).

Cited by 4 publications

References 11 publications

Prenatal Diagnosis of Supernumerary Chromosome Derivative (22) due to Maternal Balanced Translocation in Association with Diaphragmatic Hernia: a Case Report

Prenatal Diagnosis of Supernumerary Chromosome Derivative (22) due to Maternal Balanced Translocation in Association with Diaphragmatic Hernia: a Case Report

Fetal cystic hygroma in the first trimester led to diagnosis of partial trisomy 22

Prenatal diagnosis of Emanuel syndrome – case series and review of the literature

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