Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader-Willi Syndrome.

Hong, Da Kyung; Park, Ji Eun; Kang, Kyung Min; Shim, Sung Han; Shim, So Hyun; Han, You Jung; Cho, Hee Young; Cha, Dong Hyun

Hong, Da Kyung; Park, Ji Eun; Kang, Kyung Min; Shim, Sung Han; Shim, So Hyun; Han, You Jung; Cho, Hee Young; Cha, Dong Hyun.

Affiliation

Hong DK; Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of Korea.
Park JE; Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of Korea.
Kang KM; Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of Korea.
Shim SH; Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of Korea.
Shim SH; Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of Korea.
Han YJ; Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of Korea.
Cho HY; Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of Korea.
Cha DH; Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06125, Republic of Korea.

Diagnostics (Basel) ; 13(4)2023 Feb 04.

Article in En | MEDLINE | ID: mdl-36832068

Key words

PraderWilli syndrome; amniocentesis; imprinting disorder; karyotype; methylation analysis; noninvasive prenatal test; rare autosomal trisomy; trisomy rescue; uniparental disomy

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