Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter

Ultrasound in Obstetrics and Gynecology

Volumn 18, Issue 3, 2001, Pages 268-271

  Towner, D ^a   Yang, S P ^b   Shaffer, L G ^c  

^a Department of Obstetrics and Gynecology   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Chromosome 14; Nuchal translucency; Omphalocele; Prenatal diagnosis; Uniparental disomy; Ventral hernia

Indexed keywords

ADULT; AGYRIA; ARTICLE; CASE REPORT; CHROMOSOME 14Q; CONTRACTURE; FEMALE; FETUS; FETUS ECHOGRAPHY; GESTATIONAL AGE; HUMAN; HYDRAMNIOS; KARYOTYPING; OMPHALOCELE; PRIORITY JOURNAL; SKELETON MALFORMATION; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; FETUS; HUMANS; KARYOTYPING; MALE; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 0034834649     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.2001.00451.x     Document Type: Article

References (15)

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2. Mechanisms leading to uniparental disomy and their clinical consequences
3. Distinct phenotype in maternal uniparental disomy of chromosome 14
4. Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
5. Paternal uniparental disomy for chromosome 14: A case report and review
6. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult
7. Short limbed dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY, dic (14) (p11)
8. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier
9. Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange Syndrome
10. Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature
11. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: Population based cohort study
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13. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation
14. Outcome of fetuses with enlarged nuchal translucency and normal karyotype
15. Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks gestation