Prenatal diagnosis of de novo mosaic distal 18q deletion associated with congenital anomalies [3]

Ultrasound in Obstetrics and Gynecology

Volumn 21, Issue 2, 2003, Pages 202-204

  Chen, C P ^a,b   Tzen, C Y ^a   Chang, T Y ^a   Lin, C J ^a   Wang, W ^a   Lee, C C ^a   Chen, L F ^a   Chen, W L ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNIOCENTESIS; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME DELETION; CLINICAL FEATURE; DISEASE COURSE; FEMALE; FETUS ECHOGRAPHY; GENETIC ANALYSIS; GESTATION PERIOD; HUMAN; LABORATORY TEST; LETTER; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; HUMANS; KARYOTYPING; MANDIBULOFACIAL DYSOSTOSIS; MOSAICISM; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 0344406925     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1002/uog.45     Document Type: Letter

References (8)

1. de Grouchy J. The 18p-, 18q- and 18r syndromes. Birth Defect 1969; 5: 74-87.
2. Greenberg F. Chromosome 18, monosomy 18q. In Birth Defect Encyclopedia, Buyse ML (ed.). Cambridge, UK: Blackwell Scientific Publications, 1990; 382-383.
3. Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J. Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet 1995; 59: 476-483.
4. Chen C-P, Chern S-R, Liu F-F, Jan S-W, Lee C-C, Chang Y-C, Yue C-T. Prenatal diagnosis of a deletion of 18q in a fetus associated with multiple-marker screen positive results. Prenat Diagn 1997; 17: 571-576.
5. Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub RL, Leach RJ, Kaye CI. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet 1999; 85: 455-462.
6. Silverman GA, Schneider SS, Massa HF, Flint A, Lalande M, Leonard JC, Overhauser J, van den Engh G, Trask BJ. The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. Am J Hum Genet 1995; 56: 926-937.
7. den Hollander NS, Wessels MW, Los FJ, Ursem NTC, Niermeijer MF, Wladimiroff JW. Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance. Ultrasound Obstet Gynecol 2000; 15: 282-287.
8. Bergé SJ, Plath H, van de Vondel PT, Appel T, Niederhagen B, von Lindern JJ, Reich RH, Hansmann M. Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet Gynecol 2001; 18: 422-431.