Pure partial trisomy 7q: Two new patients and review

American Journal of Medical Genetics

Volumn 113, Issue 2, 2002, Pages 218-224

  Rodríguez, Laura ^a   López, Fermina ^a   Paisán, Luis ^b   Del Mar Portugués De La Red, Maria ^c   Ruiz, Angeles Maria ^b   Blanco, Manuel ^c   Cortizas, Jesús Antelo ^c   Martínez Frías, María Luisa ^a,d  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b Servicio de Neonatologia   (Spain)

^c HOSPITAL XERAL CÍES   (Spain)

^d UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

Author keywords

Chromosome 7; FISH; Partial trisomy

Indexed keywords

ARTICLE; CAMPTODACTYLY; CARDIOMYOPATHY; CASE REPORT; CHROMOSOME 7; CHROMOSOME ARM; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME PAINTING; CLEFT PALATE; CLINICAL EXAMINATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; KARYOTYPE; MALE; MICROPENIS; PARTIAL TRISOMY; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RECIPROCAL CHROMOSOME TRANSLOCATION; RETROGNATHIA; SUPERNUMERARY CHROMOSOME; TRISOMY 7; Y CHROMOSOME;

CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 7; CHROMOSOMES, HUMAN, Y; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 0037159475     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10719     Document Type: Article

References (21)

1. Bartsch O, Kalbe U, Ngo TKN, Lettau R, Schwinger E. 1990. Clinical diagnosis of partial duplication 7q. Am J Med Genet 37:254-257.
2. Berger R, Derre J, Ortiz MA. 1974. Les trisomies partielles du bras long du chromosome 7. Nouv Presse Med 3:1801-1804.
3. Courtens W, Vroman S, Vandenhove J, Wiedeman U, Schinzel A. 2001. Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7). Prenat Diagn 21:642-648.
4. Forabosco A, Baroncini A, Dalpra L, Chessa L, Giannotti A, Maccagnani F, Dallapiccola B. 1988. The phenotype of partial dup(7q) reconsidered: A report of five cases. Clin Genet 34:48-59.
5. Grace E, Sutherland GR, Stark GD, Bain AD. 1973. Partial trisomy of 7q resulting from a familial translocation. Ann Genet 16:51-54.
6. Haslam JS, Norman AM. 1992. De novo inverted duplication of chromosome 7q. J Med Genet 29:837-838.
7. Hoo JJ, Lorenz R, Fischer A, Fuhrmann W. 1982. Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion. Hum Genet 62:113-116.
8. Humphreys MW, Magee AC, Nevin NC. 1991. Duplication 7q resulting from a maternal insertional translocation. J Med Genet 28:274.
9. Johnson DD, Michels VV, Aas MA, Dewald GW. 1986. Duplication of 7q31.2-7qter and deficiency of 18qter: Report of two patients and literature review. Am J Med Genet 25:477-488.
10. Kardon NB, Pollack L, David J, Broekman A, Krauss M. 1983. De novo duplication of the 7qll-q22 region. J Med Genet 20:471-473.
11. Lukusa T, Fryns JP. 1998. Syndrome of facial, oral, and digital anomalies due to 7q21.2-q22.1 duplication. Am J Med Genet 80:454-458.
12. Martfnez-Frias ML, Frias JL, Salvador J. 1990. Clinical and epidemiological analysis of malformations. Am J Med Genet 35:121-125.
13. Ndah BV, Stead JA, Brancazio LR, Hummel M, Wenger SL. 2000. Prenatal detection of trisomy for the entire long arm of chromosome 7. J Med Genet 37:551-553.
14. Novales MA, Fernandez-Novoa C, Hevia A, San Martin V, Galera H. 1982. Partial trisomy for the long arm of chromosome 7. Case report and review. Hum Genet 62:378-381.
15. Romain DR, Cairney H, Stewart D, Columbano-Green LM, Garry M, Parslow MI, Parfitt R, Smythe RH, Chapman CJ. 1990. Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7. J Med Genet 27:109-113.
16. Serville F, Broustet A, Sandler B, Bourdeau M-J, Leloup M. 1975. Trisomie 7q partielle. Ann Genet 18:67-70.
17. Verma RS, Conte RA, Pitter JH. 1992. Tanderm duplication of the terminal band of the long arm of chromosome 7 (dir dup(7)(q36-qter)). J Med Genet 29:344-345.
18. Verp MS, Amarose AP, Esterly JR, Moawad AH. 1987. Mosaic trisomy 7 and renal dysplasis. Am J Med Genet 26:139-143.
19. Vogel W. 1977. Partial duplication 7q. In: Yunis JJ, editor. New Chromosomal Syndromes. New York: Academic Press. p 185-195.
20. Wahrman J, Cohen MM, Rosenmann A, Goitein R, Richler C, Dagan J. 1978. A long unidentifiable extra chromosomal segment - A possible duplication of human 7q. Cytogenet Cell Genet 20:160-168.
21. Yunis E, Ramirez E, Uribe JG. 1980. Full trisomy 7 and Potter syndrome. Hum Genet 54:13-18.