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- Title
Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21).
- Authors
Chen, Chih-Ping; Lin, Cheng-Chun; Chuang, Chun-Yu; Lee, Chen-Chi; Chen, Wen-Lin; Jan, Sheau-Wen; Lin, Shuan-Pei; Chen, C P; Lin, C C; Chuang, C Y; Lee, C C; Chen, W L; Jan, S W; Lin, S P
- Abstract
We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at 19 weeks' gestation due to advanced maternal age revealed an unusual karyotype of 47,XY,+der(21)t(12;21)(p13.3;q21)mat. The pregnancy was terminated at 24 gestational weeks. The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, upward slanting palpebral fissures, epicanthic folds, hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set ears with prominent anthelix and deep concha, broad hands with simian creases, a short neck, and cryptorchidism. The association of the involved chromosomal segments with the phenotype of Down's syndrome and trisomy 12p syndrome is discussed.
- Publication
Prenatal Diagnosis, 1997, Vol 17, Issue 7, p675
- ISSN
0197-3851
- Publication type
journal article
- DOI
10.1002/(SICI)1097-0223(199707)17:7<675::AID-PD114>3.0.CO;2-0