Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia

Clinical Dysmorphology

Volumn 12, Issue 2, 2003, Pages 123-127

  Morava, Eva ^a   Bartsch, Oliver ^b   Czakó, Márta ^c   Frensel, Arleta ^b   Kalscheuer, Vera ^d   Kárteszi, Judit ^a   Kosztolányi, György ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c UNIVERSITY OF PÉCS   (Hungary)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Chromosome 7q; Cleft palate; Hydrocephalus; Joint contractures; Severe hypotonia; Terminal duplication

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 13Q; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CLEFT PALATE; CLUBFOOT; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; HUMAN; HYDROCEPHALUS; JOINT CONTRACTURE; MUSCLE HYPOTONIA; PRIORITY JOURNAL; TRISOMY 7;

EID: 0038218188     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200304000-00010     Document Type: Article

References (14)

1. Bartsch O, Kalbe U, Ngo TK, Lettau R, Schwinger E (1990). Clinical diagnosis of partial duplication 7q. Am J Med Genet 37:254-257.
2. Bartsch O, Wagner A, Hinkel GK, Krebs P, Stumm M, Schmalenberger B, Böhm S, Balci S, Majewski F (1999). FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Eur J Hum Genet 7:748-756.
3. Courtens W, Vroman S, Vandenhove J, Wiedemann U, Schinzel A (2001). Pre and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(7;4). 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(Tq) reconsidered: a report of five new cases. Clin Genet 34:48-59.
5. Gurrieri F, Trask BJ, van den Engh G, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, Dietz-Band J, Vergnaud G, Scherer SW, Tsui L-C, Muenke M (1993). Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nature Genet 3:247-251.
6. Goodman BK, Stone K, Coddett JM, Cargile CB, Gurewitsch ED, Blakemore KJ, Stetten G (1999). Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat. Prenat Diagn 19:1150-1156.
7. Hoo JJ, Chao M, Szego K, Rauer M, Echiverri SC, Harris C (1995). Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin. Am J Med Genet 58:299-304.
8. 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.
9. Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH Jr, Scott MP (1997). Basal cell carcinomas in mice overexpressing sonic hedgehog. Science 276:817-821.
10. 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.
11. Robinet C, Douvier S, Khau Van Kien P, Favre B, Luquet I, Nadal N, NivelonChevallier A, Mugneret F (2000). Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly. Prenat Diagn 20:936-938.
12. Schwanitz G, Schuler H, Gembruch U, Zerres K (1993). Chromosomal findings in fetuses with ultrasonographically diagnosed ventriculomegaly. Ann Genet 36:150-153.
13. Speleman F, Callens B, Logghe K, Van Roy N, Horsley SW, Jauch A, Verschraegen-Spae MR, Leroy JG (2000). Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35-qter: molecular cytogenetic analysis and clinical phenotype in two generations. Am J Med Genet 93:349-354.
14. Stratton RF, DuPont BR, Mattern RL, Schelonka RL, Moore CM (1993). Interstitial duplication of 7(q22-q34). Am J Med Genet 47:380-382.