Second-trimester detection of mowat-wilson syndrome using comparative genomic hybridization microarray testing

Obstetrics and Gynecology

Volumn 115, Issue 2 SUPPL. 2 PART. 2, 2010, Pages 462-465

  Choy, Kwong Wai ^a   To, Ka Fai ^a   Chan, Anthony Wing Hung ^a   Lau, Tze Kin ^a   Leung, Tak Yeung ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRACHYCEPHALY; CASE REPORT; CHORION VILLUS; CHROMOSOME 1; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; ECHOGRAPHY; FEMALE; GENE DELETION; GENETIC DISORDER; GESTATIONAL AGE; HUMAN; HYPERTELORISM; HYPOSPADIAS; KARYOTYPE; MICROARRAY ANALYSIS; MOWAT WILSON SYNDROME; POLYMERASE CHAIN REACTION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIMIGRAVIDA; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SECOND TRIMESTER PREGNANCY;

ABNORMALITIES, MULTIPLE; ABORTION, INDUCED; ADULT; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DELETION; HOMEODOMAIN PROTEINS; HUMANS; KARYOTYPING; MICROARRAY ANALYSIS; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PREGNANCY TRIMESTER, SECOND; REPRESSOR PROTEINS; SYNDROME;

EID: 77649259543     PISSN: 00297844     EISSN: None     Source Type: Journal    
DOI: 10.1097/AOG.0b013e3181c9c8f8     Document Type: Article

References (9)

1. Choy KW, Chan LW, Tang MH, Ng LK, Leung TY, Lau TK. Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 3 qter) and partial monosomy 6q(6q26 3 qter) by high-resolution array CGH. J Matern Fetal Neonatal Med 2009;22:1014-1020
2. Law LW, Lau TK, Fung TY, Leung TY, Wang CC, Choy KW. De novo 16p13.11 microdeletion identified by high resolution array CGH in a fetus with increased nuchal translucency. BJOG 2009;116:339-343
3. Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, et al. Loss-of-function mutations in SIP1 Smad interacting protein 1 results in a syndromic Hirsch-sprung disease. Hum Mol Genet 2001;10:1503-1510
4. Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, et al. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A 2009;149A:417-426
5. Senat MV, Bussières L, Couderc S, Roume J, Rozenberg P, Bouyer J, et al. Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study. Am J Obstet Gynecol 2007;196:53.e1-6
6. Maymon R, Weinraub Z, Herman A. Pregnancy outcome of euploid fetuses with increased nuchal translucency: how bad is the news? J Perinat Med 2005;33:191-198
7. Engenheiro E, Møller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, et al. Mowat-Wilson syndrome: an underdiag-nosed syndrome? Clin Genet 2008;73:579-584
8. Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci 2009;1151:157-166
9. Müller MA, Pajkrt E, Bleker OP, Bonsel GJ, Bilardo CM. Disappearance of enlarged nuchal translucency before 14 weeks' gestation: relationship with chromosomal abnormalities and pregnancy outcome. Ultrasound Obstet Gynecol 2004;24:169-174