Deletion of the long arm of chromosome 6: Two new patients and literature review

Clinical Genetics

Volumn 50, Issue 3, 1996, Pages 138-144

  Evers, L J M ^a   Schrander Stumpel, C T R M ^a,d   Engelen, J J M ^a   Hoorntje, T M ^a   Pulles Heintzberger, C F M ^a   Schrander, J J P ^a   Albrechts, J C M ^a   Peters, J ^b   Fryns, J P ^a,c  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b Sittard Geleen Heerlen   (Netherlands)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d Department of Clinical Genetics ^*  (Netherlands)

Author keywords

Cardiac defect; Chromosome 6q; Interstitial deletion; Terminal deletion

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 6Q; CHROMOSOME DELETION; CHROMOSOME G BAND; COSMID; FACE DYSMORPHIA; FEMALE; GROWTH RETARDATION; HEART DISEASE; HUMAN; HUMAN CELL; INFANT; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; NEWBORN; PARTIAL MONOSOMY; PRIORITY JOURNAL;

EID: 10344260241     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02368.x     Document Type: Article

References (38)

1. Bartoshesky L, Lewis MB, Pashayan HM. Developmental abnormalities associated with long arm deletion of chromo-some no. 6. Clin Genet 1978: 13: 68-71.
2. Braverman A, Kline A, Pyeritz RE. Interstitial deletion of 6q associated with ectrodactyly. Am J Hum Genet 1993 (suppl) 53: 410.
3. Bzduch V, Lukacova M. Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with a phenotypic features of Williams syndrome. Clin Genet 1989: 35: 230-231.
4. Chery M, de Formiga L, Mujica P, Andre M, Stehelin D, Dozier C, Gilgenkrantz S. Interstitial deletion of the long arm of chromosome 6. Ann Genet (Paris) 1989: 32: 82-86.
5. Cote GB, Papadakou-Lagoyanni S, Metaxotou C. A de novo interstitial deletion of band q21 on chromosome 6. Ann Genet (Paris) 1981: 24: 170-171.
6. Dallapiccolla B, Bricarelli FD, Quartino AR, Mazzili MC, Chisci R, Gandini E. Delineation of syndromes due to partial 6q imbalances; trisomy 6q21→qter and monosomy 6q221→qter in two unrelated patients. Acta Genet Med Gemellol 1978: 27: 57-66.
7. Dutrillaux B, Viegas-Pequignot E. High resolution R- and G-banding in the same preparation. Hum Genet 1981: 57: 93-95.
8. Fryns JP, Vandenberghe K, Van den Berghe H. Prune-belly anomaly and large interstitial deletion of the long arm of chromosome 6. Ann Géńet 1991: 34: 127.
9. Glover G, Lopez I, Gaborron J, Carmona JA. Partial monosomy 6q(q15q21) by de novo interstitial deletion. Clin Genet 1988: 33: 308-310.
10. Goldberg R, Fish B, Ship A, Shprintzen RJ. Deletion of a portion of the long arm of chromosome 6. Am J Med Genet 1980: 5: 73-80.
11. Hecht F, Hecht BK. Nonrandom chromosome breakpoints in 6q deletions. Clin Genet 1992: 41: 167-168.
12. Horigomo H, Takano T, Hirano T, Kajima T, Ohtani S. Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve. Am J Med Genet 1991: 38: 608-611.
13. Ito H, Yamasaki T, Okamoto O, Tahara E. Infantile hemangioendothelioma of the liver in patient with interstitial deletion of chromosome 6q: report of an autopsy case. Am J Med Genet 1989: 34: 325-329.
14. Jabs EW, Wolf SF, Migeon BR. Characterization of a cloned DNA sequence that is present at the centromeres of all human autosomes and the X-chromosome and shows polymorphic variation. Proc Natl Acad Sci USA 1984: 81: 4884-4888.
15. Krassikoff N, Sekhon GS. Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair? Am J Med Genet 1990: 36: 363-364.
16. Kueppers F, Dewald G, Gordon H, Pineda A. Exclusion of the HLA locus from a large portion of the long arm of chromosome 6. Hum Hered 1977: 27: 242-246.
17. Liberfarb RM, Atkins L, Holmes LB. Chromosome 6q- and associated malformations. Ann Genet (Paris) 1978: 33: 57-59.
18. Lichter P, Tang CC, Call K, Hermanson G, Evans HJ, Housman D, Ward DC. High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 1990: 247: 64-69.
19. Lonardo F, Colantuoni M, Festa B, Gentile G, Guerritore G, Perone L, Santulli B, Ventruto V. A malformed girl with a de novo proximal 6q deletion. Ann Genet 1988: 31: 57-59.
20. Matkins SV, Meyer JE, Berry AC. A child with partial monosomy 6q secondary to a maternal direct insertional event. J Med Genet 1987: 24: 227-229.
21. McLeod DR, Fowlow SB. Robertson A, Samcoe D, Burgess I, Hoo JJ. Chromosome 6q deletions: A report of two additional cases and a review of the literature. Am J Med Genet 1990: 35: 79-84.
22. McNeal RM, Skoglund RR, Franke U. Congenital anomalies including the VATER association in a patient with a del(6q) deletion. J Pediatr 1977: 91: 957-960.
23. Meng J, Fujita H, Nagahara N, Kashiwai A, Yoshioka Y, Funato M. Two patients with chromosome 6q terminal deletion with breakpoints at q24.3 and q25.3, Am J Med Genet 1992: 43: 747-750.
24. Milosevic J, Kalicanin P. Long arm deletion of chromosome 6 in a mentally retarded boy with multiple physical malformations. J Ment Defic Res 1975: 19: 139-144.
25. Nakagome Y, Tanaka T, Hashimoto T, Kuyama N, Maruyama M. Interstitial deletion 6q in a malformed boy. Ann Genet (Paris) 1980: 23: 49-51.
26. Narahara K, Tsuji K, Yokoyama Y, Namba H, Murakami M, Matsubara T, Kasai R, Fukushima Y, Seki T, Wakui K, Seino Y. Specification of small distal 6q deletion in two patients by gene dosage and in situ hybridization study of plasminogen and α-L-fucosidase 2. Am J Med Genet 1991: 40: 348-353.
27. Park JP, Graham JM, Suzan J, Berg Z. Wuster-Hill DH. A de novo interstitial deletion of chromosome 6(q22.2q23.1). Clin Genet 1988: 33: 65-68.
28. Rivas F, Ruiz H, Möller M, Serrano-Lucas JI, Cantu JM. De novo del(6)(q25) associated with macular degeneration. Ann Genet (Paris) 1986: 29: 42-44.
29. Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH. Ocular albinism in a male with del(6)(q13-q15): Candidate region for autosomal recessive ocular albinism? Am J Med Genet 1992: 42: 700-705.
30. Schwartz MF, Kaffe S, Wallace S, Marchese S. Interstitial deletion of the long arm of chromosome 6:del(6)(q16q22):case report and review of the literature. Clin Genet 1984: 26: 574-578.
31. Shen-Schwartz S, Hill LM, Surti U,. Marchese S. Deletion of terminal portion of 6q: report of a case with unusual malformations. Am J Med Genet 1989: 32: 81-86.
32. Slater HR, Robb A, Forsyth LA, Hamilton DA, Clark MC, Galloway CAS. Interstitial deletion (6)(q11q15) in an infant with congenital abnormalities. J Med Genet 1988: 25: 210-211.
33. Stevens CA, Fineman RM, Breg WR, Silken AB. Report of two cases of distal deletion of the long arm of chromosome 6. Am J Med Genet 1988: 29: 807-814.
34. Turleau C, Demay G, Cabanis MO, Lenoir G, de Grouchy J. 6q1 monosomy: a distinctive syndrome. Clin Genet 1988: 34: 38-42.
35. Valtat C, Galliano D, Mettey R, Toutain A, Moraine C. Monosomy 6q: report of four new cases. Clin Genet 1992: 41: 159-166.
36. Villa A, Urioste M, Bofarull JM, Martínez-Frías ML. De novo interstitial deletion q16.2q21 on chromosome 6. Am J Med Genet 1995: 55: 379-383.
37. Yamamoto Y, Okamoto N, Shiraishi H, Yanagisawa M, Kamoshita S. Deletion of proximal 6q: a clinical report and review of the literature. Am J Med Genet 1986: 25: 467-471.
38. Young RS, Fidone GS, Reider-Garcia PA, Hansen KL, McCombs JL, Moore CM. Deletion of the long arm of chromosome 6: two new cases and review of the literature. Am J Med Genet 1985: 20: 21-29.