Strong variable clinical presentation in 3 patients with 7q terminal deletion

Genetic Counseling

Volumn 9, Issue 1, 1998, Pages 5-14

  Frints, S G M ^a,d   Schrander Stumpel, C T R M ^a   Schoenmakers, E F P M ^b,d   Engelen, J J M ^a   Reekers, A B A ^c   Van Den Neucker, A M ^a   Smeets, E ^d,e   Devlieger, H ^d   Fryns, J P ^a,d  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c Rehabilitation Centre for Children   (Netherlands)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e Department of Pediatrics   (Belgium)

Author keywords

7q terminal deletion; Holoprosencephaly; SHH; Single maxillary central incisor

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CHROMOSOME 5Q; CHROMOSOME 7Q; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CORPUS CALLOSUM; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HOLOPROSENCEPHALY; HUMAN; INCISOR; INFANT; MALE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY;

ABNORMALITIES, MULTIPLE; BRAIN; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INCISOR; INFANT; MALE; PHENOTYPE; PROTEINS; TOOTH ABNORMALITIES; TRANS-ACTIVATORS;

ERINACEIDAE;

EID: 0031888686     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. BELLONI E., MUENKE M., ROESSLER E., TRAVERSO G., SIEGEL-BARTELT J., FRUMKIN A., MITCHELL H.F., DONISKELLER H., HELMS C., HING A.V., HENG H.H.Q., KOOP B., MARTINDALE D., ROMMENS J.M., TSUI L.-C. and SCHERER S.W.: Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nature Genet.,1996, 14, 353-356.
2. COLLINS A.L., LUNT P.W., GARRETT C. and DENNIS N.R.: Holoprosencephaly: a family showing dominant inheritance and variable expression. J. Med. Genet.,1993, 30, 36-40.
3. FRINTS S.G.M., SCHOENMAKERS E.E.P.M., SMEETS E., PETIT P. and FRYNS J.-P: De novo 7q36 deletion: breakpoint analysis and types of holoprocencephaly. Am. J. Med. Genet.,1998, 75, 153-158.
4. GURRIERI F., TRASK B.J., VAN DEN ENGH G., KRAUSS C.M., SCHINZEL A., PETTENATI M.J., SCHINDLER D., DIETZ-BAND J., VERGNAUD G., SCHERER S.W., TSUI L.-C. and MUENKE M.: Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nature Genet., 1993, 3, 247-251.
5. KRAUSS C.M., LIPTAK K.J., AGGARWAL A. and ROBINSON D.: Inheritance and phenotypic expression of a t(7;9)(q36;q34)mat. Am. J. Med. Genet.,1989, 34, 514-519.
6. LURIE I.W., ILYINA H.G., PODLESCHUK L.V., GORELIK L.B. and ZALETAJEV D.V.: Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. Am. J. Med. Genet., 1990, 35, 286-288.
7. MASUNO M., FUKUSHIMA Y., SUGIO Y., IKEDA M. and KUROKI Y.: Two unrelated cases of single maxillary central incisor with 7q terminal deletion. Jpn. J. Hum. Genet., 1990, 35, 311-317.
8. MASUNO M. and ORII T.: Terminal 7q deletion as a cause of holoprosencephaly: Letter to the editor. Clin. Genet., 1990, 37, 238.
9. MÜNKE M.: Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. Am. J. Med. Genet., 1989, 34, 237-245.
10. MUENKE M., GURRIERI F., BAY C., YI D.H., COLLINS A.L., JOHNSON V.P., HENNEKAM R.C.M., SCHAEFER G.B., WEIK L.A., LUBINSKY M.S., DAACKHIRSCH S., MOORE C.A., DOBYNS W.B., MURRAY J.C. and PRICE R.A.: Linkage of a human brain malformation, familial holoprocencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc. Natl. Acad. Sci. USA.,1994, 91, 8102-8106.
11. ROESSLER E., BELLONI E., GAUDENZ K., JAY P., BERTA P., SCHERER S.W., TSUI L.-C. and MUENKE M.: Mutations in the human Sonic hedgehog gene cause holoprosencephaly. Nature Genet.,1996, 14, 357-360.
12. ROESSLER E., WARD D.E., GAUDENZ K., BELLONI E., SCHERER S.W., DONNAI D., SIEGEL-BARTELT J., TSUI L.-C. and MUENKE M. (1997): Cytogenetic rear- rangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum. Genet., 1997, 100, 172-181.
13. SCHRANDER-STUMPEL C., SCHRANDER J., FRYNS J.-P. and HAMERS G.: Caudal deficiency sequence in 7q terminal deletion. Am. J. Med. Genet., 1988, 30, 757-761.
14. TAYSI K., BURDE R.M. and ROHRBAUGH J.R.: Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. Ann. Genet., 1982, 25(3): 159-161.
15. WARBURG M., BUGGE M. and BRØNDUMNIELSEN K.: Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J. Med. Genet.,1995, 32, 19-24.