Abstract
A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not necessarily associated with craniosynostosis.
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- Friedrich U., Lyngbye T., Oster J. A girl with karyotype 46,XX,del(7)(qter-p 15:). Humangenetik. 1975;26(2):161–165. doi: 10.1007/BF00278448. [DOI] [PubMed] [Google Scholar]
- Fryns J. P., Haspeslagh M., Agneessens A., van den Berghe H. De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis. Ann Genet. 1985;28(1):45–48. [PubMed] [Google Scholar]
- García-Esquivel L., García-Cruz D., Rivera H., Plascencia M. L., Cantú J. M. De novo del(7)(pter----p21.2::p15.2----qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome. Ann Genet. 1986;29(1):36–38. [PubMed] [Google Scholar]
- Gong B. T., Norwood T. H., Hoehn H., McPherson E., Hall J. G., Hickman R. Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome. Hum Genet. 1976 Dec 29;35(1):117–123. doi: 10.1007/BF00295627. [DOI] [PubMed] [Google Scholar]
- Miller M., Kaufman G., Reed G., Bilenker R., Schinzel A. Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21. Am J Med Genet. 1979;4(4):323–332. doi: 10.1002/ajmg.1320040403. [DOI] [PubMed] [Google Scholar]
- Motegi T., Ohuchi M., Ohtaki C., Fujiwara K., Enomoto S., Hasegawa T., Kishi K., Hayakawa H. A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21. Hum Genet. 1985;71(2):160–162. doi: 10.1007/BF00283374. [DOI] [PubMed] [Google Scholar]
- Nakagome Y., Teramura F., Katoaka K., Hosono F. Mental retardation, malformation syndrome andpartial 7p monosomy [45, XX, tdic (7;15) (p21;p11)]. Clin Genet. 1976 Jun;9(6):621–624. [PubMed] [Google Scholar]
- Schömig-Spingler M., Schmid M., Brosi W., Grimm T. Chromosome 7 short arm deletion, 7p21----pter. Hum Genet. 1986 Nov;74(3):323–325. doi: 10.1007/BF00282559. [DOI] [PubMed] [Google Scholar]
- Wilson M. G., Fujimoto A., Shinno N. W., Towner J. W. Giant satellites or translocation? Cytogenet Cell Genet. 1973;12(4):209–214. doi: 10.1159/000130457. [DOI] [PubMed] [Google Scholar]
- Zackai E. H., Breg W. R. Ring chromosome 7 with variable phenotypic expression. Cytogenet Cell Genet. 1973;12(1):40–48. doi: 10.1159/000130436. [DOI] [PubMed] [Google Scholar]