Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies)
Samo za registrovane korisnike
2002
Članak u časopisu (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
Liveborn infants with tetraploidy are very rare in human pregnancies and usually die during the first days or months. Seven cases of liveborn infants with tetraploidy have previously been reported. Among them only two 92, XXXX infants survived for longer than 12 months. Here we report on the case of a 26-month-old girl with tetraploidy. The main clinical features of tetraploidy are facial dysmorphism, severely delayed growth and developmental delay. On the basis of molecular studies we discuss the possible origin of the additional chromosome sets in our proband. To our knowledge, this infant is the first reported case of tetraploidy who lived up to 26 months.
Ključne reči:
humans / constitutive tetraploidyIzvor:
Clinical Genetics, 2002, 61, 1, 62-65Izdavač:
- Wiley, Hoboken
DOI: 10.1034/j.1399-0004.2002.610112.x
ISSN: 0009-9163
PubMed: 11903358
WoS: 000174828700015
Scopus: 2-s2.0-0036461305
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Guc-Scekić, M AU - Milašin, Jelena AU - Stevanović, Milena AU - Stojanov, LJ AU - Đorđević, M PY - 2002 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/170 AB - Liveborn infants with tetraploidy are very rare in human pregnancies and usually die during the first days or months. Seven cases of liveborn infants with tetraploidy have previously been reported. Among them only two 92, XXXX infants survived for longer than 12 months. Here we report on the case of a 26-month-old girl with tetraploidy. The main clinical features of tetraploidy are facial dysmorphism, severely delayed growth and developmental delay. On the basis of molecular studies we discuss the possible origin of the additional chromosome sets in our proband. To our knowledge, this infant is the first reported case of tetraploidy who lived up to 26 months. PB - Wiley, Hoboken T2 - Clinical Genetics T1 - Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies) EP - 65 IS - 1 SP - 62 VL - 61 DO - 10.1034/j.1399-0004.2002.610112.x ER -
@article{ author = "Guc-Scekić, M and Milašin, Jelena and Stevanović, Milena and Stojanov, LJ and Đorđević, M", year = "2002", abstract = "Liveborn infants with tetraploidy are very rare in human pregnancies and usually die during the first days or months. Seven cases of liveborn infants with tetraploidy have previously been reported. Among them only two 92, XXXX infants survived for longer than 12 months. Here we report on the case of a 26-month-old girl with tetraploidy. The main clinical features of tetraploidy are facial dysmorphism, severely delayed growth and developmental delay. On the basis of molecular studies we discuss the possible origin of the additional chromosome sets in our proband. To our knowledge, this infant is the first reported case of tetraploidy who lived up to 26 months.", publisher = "Wiley, Hoboken", journal = "Clinical Genetics", title = "Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies)", pages = "65-62", number = "1", volume = "61", doi = "10.1034/j.1399-0004.2002.610112.x" }
Guc-Scekić, M., Milašin, J., Stevanović, M., Stojanov, L.,& Đorđević, M.. (2002). Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies). in Clinical Genetics Wiley, Hoboken., 61(1), 62-65. https://doi.org/10.1034/j.1399-0004.2002.610112.x
Guc-Scekić M, Milašin J, Stevanović M, Stojanov L, Đorđević M. Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies). in Clinical Genetics. 2002;61(1):62-65. doi:10.1034/j.1399-0004.2002.610112.x .
Guc-Scekić, M, Milašin, Jelena, Stevanović, Milena, Stojanov, LJ, Đorđević, M, "Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies)" in Clinical Genetics, 61, no. 1 (2002):62-65, https://doi.org/10.1034/j.1399-0004.2002.610112.x . .