Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold

Gene

Volumn 516, Issue 1, 2013, Pages 138-142

  Chen, Chih Ping ^a,b,c,d,e   Chen, Yi Yung ^a   Chern, Schu Rern ^a   Wu, Peih Shan ^f   Su, Jun Wei ^a,g   Chen, Yu Ting ^a   Chen, Li Feng ^a   Wang, Wayseen ^a,h  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b MACKAY MEDICAL COLLEGE   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

^f GENE BIODESIGN CO LTD   (Taiwan)

^g CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^h TATUNG UNIVERSITY   (Taiwan)

Author keywords

Coarctation of the aorta; MED13L; RNASET2; TBX3; TBX5; Ventriculomegaly

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION CELL; ANEUPLOIDY; AORTA COARCTATION; ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CHROMOSOME 12; CHROMOSOME 12Q; CHROMOSOME 6; CHROMOSOME 6Q; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MARKER; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE DUPLICATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HAPLOINSUFFICIENCY; HUMAN; HYPERTELORISM; KARYOTYPE; LYMPHOCYTE; MICROGNATHIA; NUCHAL CORD; PARTIAL MONOSOMY; PARTIAL MONOSOMY 6Q; PARTIAL TRISOMY; PARTIAL TRISOMY 12Q; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE UMBILICAL ARTERY; UMBILICAL CORD BLOOD;

ADULT; AORTIC COARCTATION; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; HUMANS; HYDROCEPHALUS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY;

EID: 84873092432     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.12.051     Document Type: Article

References (11)

1. Bamshad M., et al. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat. Genet. 1997, 16:311-315.
2. Chen C.-P., et al. Unbalanced reciprocal translocations at amniocentesis. Taiwan J. Obstet. Gynecol. 2011, 50:48-57.
3. Chen C.-P., et al. Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes. Taiwan J. Obstet. Gynecol. 2012, 51:93-99.
4. Henneke M., et al. RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat. Genet. 2009, 41:773-775.
5. Hiroi Y., et al. Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat. Genet. 2001, 28:276-280.
6. Hoogaars W.M.H., et al. Tbx3 controls the sinoatrial node gene program and imposes pacemaker function on the atria. Genes Dev. 2007, 21:1098-1112.
7. Jacobs P.A., Browne C., Gregson N., Joyce C., White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J. Med. Genet. 1992, 29:103-108.
8. Li Q.Y., et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat. Genet. 1997, 15:21-29.
9. Li P., et al. Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. Am. J. Med. Genet. 2011, 155A:1605-1615.
10. Muncke N., et al. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation 2003, 108:2843-2850.
11. Radio F.C., et al. TBX2 gene duplication associated with complex heart defect and skeletal malformations. Am. J. Med. Genet. 2010, 152A:2061-2066.