Trisomy 14 mosaicism: A case report and review of the literature

Journal of Perinatology

Volumn 24, Issue 2, 2004, Pages 121-123

  Lynch, M Fran ^a,b   Fernandes, Caraciolo J ^a,b   Shaffer, Lisa G ^c   Potocki, Lorraine ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c WASHINGTON STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENOBARBITAL;

ARTICLE; BLOOD ANALYSIS; CARDIOMEGALY; CASE REPORT; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CLINODACTYLY; DANDY WALKER SYNDROME; DIAGNOSTIC PROCEDURE; FEMALE; GESTATIONAL AGE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDROCEPHALUS; INCIDENCE; INFANT; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PNEUMONIA; PSYCHOMOTOR DISORDER; RESPIRATORY TRACT INFECTION; SEIZURE; TRISOMY 14; VAGINAL DELIVERY;

CHROMOSOMES, HUMAN, PAIR 14; FEMALE; HUMANS; INFANT, NEWBORN; MOSAICISM; TRISOMY;

EID: 1642568673     PISSN: 07438346     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.jp.7211048     Document Type: Article

References (5)

1. Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP. Natural history of mosaic trisomy 14 syndrom. Am J Med Genet 1992;44:189-96.
2. Johnson VP, Aceto T, Likness C. Trisomy 14 mosaicism: Case report and review. Am J Med Genet 1979;3:331-9.
3. Tunca Y, Wilroy RS, Kadandale JS, Martens PR, Guthers WM, Tharapel AT. Hypomelanosis of Ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism. Ann Genet 2000;43:39-43.
4. Küster W, König A. Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicism. Am J Med Genet 1999;85:346-50.
5. Iglesias A, McCurdy LD, Glass IA, et al. Mosaic trisomy 14 with hepatic involvement. Ann Genet 1997;40:104-8.