Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction

Prenatal Diagnosis

Volumn 23, Issue 1, 2003, Pages 40-43

  Chen, Chih Ping ^a,b   Chern, Schu Rern ^a   Chang, Tung Yao ^a   Lee, Chen Chi ^a   Chen, Li Feng ^a   Tzen, Chin Yuan ^a   Wang, Wayseen ^a   Lin, Chen Ju ^a   Yang, Brian P T ^c   Yang, Lawrence S T ^c  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

22q13 deletion; Isodicentric ring chromosome 22; Mosaic ring chromosome 22; Mosaic trisomy 22; Prenatal diagnosis

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION FLUID; ANEUPLOIDY; ARTICLE; CARDIOVASCULAR DISEASE; CASE REPORT; CHROMOSOME 22; CHROMOSOME ABERRATION; CYTOGENETICS; EAR MALFORMATION; EPICANTHUS; FEMALE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GESTATIONAL AGE; HUMAN; INTRAUTERINE GROWTH RETARDATION; MATERNAL AGE; MOLECULAR HYBRIDIZATION; MOSAICISM; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUANTITATIVE DIAGNOSIS; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; ADULT; AMNIOCENTESIS; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; FETAL GROWTH RETARDATION; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MATERNAL AGE; MOSAICISM; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PREGNANCY, HIGH-RISK; RING CHROMOSOMES; TRUNCUS ARTERIOSUS, PERSISTENT; ULTRASONOGRAPHY, PRENATAL;

EID: 12244280411     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.517     Document Type: Article

References (12)

1. Bacino CA, Schreck R, Fischel-Ghodsian N, Pepkowitz S, Prezant TR, Graham Jr JM. 1995. Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature. Am J Med Genet 56: 359-365.
2. Berghella V, Wapner RJ, Yang-Feng T, Mahoney MJ. 1998. Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling. Prenat Diagn 18: 384-389.
3. Crowe CA, Schwartz S, Black CJ, Jaswaney V. 1997. Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes. Am J Med Genet 71: 406-413.
4. DiGeorge AM. 1965. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypothyroidism. In Birth Defects Original Article Series, vol, 4 Good RA, Bergsma D (eds). National Foundation-March of Dimes: New York; 116-121.
5. Elder DA, Kaiser-Rogers K, Aylsworth AS, Calikoglu AS. 2001. Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome. Am J Med Genet 101: 17-19.
6. Frizzley JK, Stephan MJ, Lamb AN, et al. 1999. Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation. J Med Genet 36: 237-241.
7. Phelan MC, Rogers RC, Saul RA, et al. 2001a. 22q13 deletion syndrome. Am J Med Genet 101: 91-99.
8. Phelan MC, Brown EF, Rogers RC. 2001b. Prenatal diagnosis of mosaicism for deletion 22q13.3. Prenat Diagn 21: 1100.
9. Riegel M, Baumer A, Wisser J, Acherman J, Schinzel A. 2000. Prenatal diagnosis of mosaicism for a del(22)(q13). Prenat Diagn 20: 76-79.
10. Schinzel A, Schmid W, Fraccaro M, et al. 1981a. The "cat eye syndrome": dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter → q11) associated with a characteristic phenotype. Hum Genet 57: 148-158.
11. Schinzel AA. 1981b. Incomplete trisomy 22. Hum Genet 56: 269-273.
12. Stevens CA, Carey JC, Shigeoka AO. 1990. DiGeorge anomaly and velocardiofacial syndrome. Pediatrics 85: 526-530.