Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1→qter) and partial monosomy 20q (20q13.3→qter)

Prenatal Diagnosis

Volumn 25, Issue 2, 2005, Pages 112-118

  Chen, Chih Ping ^a,b   Lin, Shuan Pei ^a   Lin, Chyi Chyang ^c   Li, Yueh Chun ^d   Chern, Schu Rern ^a   Chen, Wei Min ^e   Lee, Chen Chi ^a   Hsieh, Lie Jiau ^c   Wang, Wayseen ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^e West Garden Hospital   (Taiwan)

Author keywords

Chromosome 20q deletion; FISH; Partial trisomy 16q; Polymorphic DNA marker analysis; SKY

Indexed keywords

DNA MARKER;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 16Q; CHROMOSOME 20Q; CYTOGENETICS; FEMALE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; MALE; MONOSOMY; MULTIPLE MALFORMATION SYNDROME; POLYMORPHIC LOCUS; PRIORITY JOURNAL; SPECTRAL KARYOTYPING; TRISOMY 16;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 20; CYTOGENETIC ANALYSIS; DIAGNOSIS, DIFFERENTIAL; DNA; FEMALE; FETAL GROWTH RETARDATION; HUMANS; INFANT, NEWBORN; MALE; MAXILLOFACIAL ABNORMALITIES; PREGNANCY; PREGNANCY TRIMESTER, THIRD; TRISOMY; ULTRASONOGRAPHY, PRENATAL;

EID: 14744274432     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1083     Document Type: Article

References (17)

1. Bacino CA, Lee B, Spikes AS, Shaffer LG. 1999. Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart. Am J Med Genet 82: 128-131.
2. Bianchi DW, Nicholls RD, Russell KA, Miller WA, Ellin M, Lage JM. 1992. Pericentric inversion of chromosome 16 in a large kindred: spectrum of morbidity and mortality in offspring. Am J Med Genet 43: 791-795.
3. Calva P, Frías S, Carnevale A, Reyes P. 1984. Partial trisomy 16q resulting from maternal translocation 11p/16q. Ann Génét 27: 122-125.
4. Carlin ME 1990. Chromosome 16, trisomy 16q. In British Defects Encyclopedia, Buyse ML. (ed). Blackwell Scientific Publications: Cambridge; 278-280.
5. Cusick W, Bork M, Fabri B, Benn P, Rodis JF, Louis B Jr. 1995. Trisomy 16 fetus surviving into the second trimester. Prenat Diagn 15: 1078-1081.
6. Fraisse J, Bertheas MF, Frere F, Lauras B, Rolland MO, Brizard CP. 1981. Un nouveau syndrome: del(20)(q13-qter). Localisation segmentaire de gene de l'adenosine deaminase (ADA). Ann Génét 24: 216-219.
7. Houlston RS, Renshaw RM, James RS, Ironton R, Temple IK. 1994. Duplication of 16q22→qter confirmed by fluorescence in situ hybridisation and molecular analysis. J Med Genet 31: 884-887.
8. Knapp D, Zunich J. 1985. Complex cardiac malformations in partial trisomy 16q. Am J Hum Genet 37: A102.
9. Masuno M, Ishii T, Tanaka Y, et al. 2000. De novo trisomy 16p11.2-qter: report of an infant. Am J Med Genet 92: 308-310.
10. Nyhan WL, Mascarello J, Barshop B, Doroski D, Hirschhorn K. 1989. Duplication of 16q and deletion of 15q. Am J Med Genet 34: 183-186.
11. Paladini D, D'Agostino A, Liguori M, et al. 1999. Prenatal findings in trisomy 16q of paternal origin. Prenat Diagn 19: 472-475.
12. Piram A, Ortolan D, Peres LC, Pina-Neto JM, Riegel M, Schinzel A. 2003. Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-pter resulting from unbalanced segregation of a complex maternal translocation. Am J Med Genet 120A: 247-252.
13. Porfirio B, Valorani MG, Giannotti A, Sabetta G, Dallapiccola B. 1987. Ring 20 chromosome phenotype. J Med Genet 24: 375-377.
14. Reish O, Berry SA, Dewald G, King RA. 1996. Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm. Am J Med Genet 61: 21-25.
15. Rethoré MO, Lafourcade J, Couturier J, et al. 1982. Increased activity of adenine phosphoribosyl transferase in a child trisomic for 16q22.2→16qter due to malsegregation of a t(16;21)(q22.2;q22.2)pat. Ann Génét 25: 36-42.
16. Shabtai F, Ben-Sasson E, Arieli S, Grinblat J. 1993. Chromosome 20 long arm deletion in an elderly malformed man. J Med Genet 30: 171-173.
17. Yancey MK, Hardin EL, Pacheco C, Kuslich CD, Donlon TA. 1996. Non-mosaic trisomy 16 in a third-trimester fetus. Obstet Gynecol 87: 856-860.