Syndrome of facial, oral, and digital anomalies due to 7q21.2→q22.1 duplication

American Journal of Medical Genetics

Volumn 80, Issue 5, 1998, Pages 454-458

  Lukusa, T ^a,b   Fryns, J P ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

Chromosome 6; Chromosome 7; Insertional translocation; Oro facial and digital anomalies; Trisomy 7q

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME 7Q; CHROMOSOME DUPLICATION; CHROMOSOME PAINTING; CYTOGENETICS; FACE MALFORMATION; FINGER MALFORMATION; HUMAN; KARYOTYPE; MALE; MOUTH MALFORMATION; PRIORITY JOURNAL; SYNDROME; TRISOMY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 7; HAND DEFORMITIES, CONGENITAL; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; TRANSLOCATION, GENETIC; TRISOMY;

DUDLEYA EDULIS;

EID: 0032545310     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981228)80:5<454::AID-AJMG4>3.0.CO;2-O     Document Type: Article

References (17)

1. Berger R, Derre J, Ortiz MA (1974): Les trisomies partielles du bras long du chromosome 7. Nouv Presse Med 3:1801-1804.
2. Couzin DA, Haïtes N, Watt JL, Johnston AW (1986): Partial trisoniy 7 (q32-qter) syndrome in two children. J Med Genet 23:461-465.
3. Felding I, Mitelman F (1979): A child with partial trisomy 7 and 20 inherited from the mother. Hereditas 91:91-95.
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 new 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. Hoo JJ, Lorenz R, Fischer A, Fuhrmann W (1982): Tiny interstitial dupli-
7. cation 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 28:574.
9. Johnson DD, Michels W, Aas MA, Dewald GW (1986): Duplication of 7q31.2-7qter and deficiency of ISqter: report of two patients and literature review. Am J Med Genet 25:477-488.
10. Kardon NB, Pollack L, Davis J, Broekman A, Krauss M (1983): De novo duplication of 7qll-q22 region. J Med Genet 20:471-473.
11. Novales MA, Fernandez-Novoa C, Hevia A, Martin VS, Galera H (1982): Partial trisomy for the long arm of chromosome 7. Case report and review. Hum Genet 62:378-381.
12. Romain DR, Cairney H, Stewart D, Columbano-Green LM, Garry M, Parslow MI, Parfitt R, Smynthe RH, Chapman CJ (1990): Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7. J Med Genet 27:109-113.
13. Serville F, Broustet A, Sandier B, Bourdeau M-J, Leloup M (1975): Trisomie 7q partielle. Ann Genet 18:67-70.
14. Shashi V, Clark P, Rogol AD, Wilson WG (1995): Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI:a new type of OFDS? Am J Med Genet 57:22-26.
15. Toriello HV (1993): Oral-facial-digital syndromes, 1992. Clin Dysmorphol 2:95-105.
16. Vogel W (1977): Partial duplication 7q. In Yunis JJ (ed): New chromosomal syndromes. New York: Academic Press, p 185-195.
17. Zackowski JL, Raffel LJ, McDaniel LD, Schwartz S (1990): A paternal balanced translocation [t(7;22)(q32;ql3.3)l leading to reciprocal unbalanced karyotypes in two consecutive pregnancies. Ann Genet 33:113-116.