Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

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Van Esch , Hilde; Rosser , Elisabeth M; Janssens , Sandra; Van Ingelghem , Ingrid; Loeys , Bart; Menten , Björn;
(2010)
  • Publisher: BMJ Publishing Group
  • Related identifiers: doi: 10.1136/jmg.2010.077586
  • Subject: Clinical genetics | Cytogenetics | Connective tissue disease

International audience; Interstitial deletions of the long arm of chromosome 6 are rare, and most of the reported cases represent large, cytogenetically detectable deletions. The implementation of array-CGH in the diagnostic work-up of patients presenting with congenita... View more
  • References (13)
    13 references, page 1 of 2

    Zherebtsov MM, Klein RT, Aviv H, Toruner GA, Hanna NN, Brooks SS. Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature. Clin Dysmorphol 2007;16(3):135-40.

    Buysse K, Delle Chiaie B, Van Coster R, Loeys B, De Paepe A, Mortier G, Speleman F, Menten B. Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience. Eur J Med Genet 2009.

    Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006;43(8):625-33.

    Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 2009;84(4):524-33.

    McNeal RM, Skoglund RR, Francke U. Congenital anomalies including the VATER association in a patient with del(6)q deletion. J Pediatr 1977;91(6):957-60.

    Young RS, Fidone GS, Reider-Garcia PA, Hansen KL, McCombs JL, Moore CM. Deletions of the long arm of chromosome 6: two new cases and review of the literature. Am J Med Genet 1985;20(1):21-9.

    Gershoni-Baruch R, Mandel H, Bar El H, Bar-Nizan N, Borochowitz Z, Dar H. Interstitial deletion (6)q13q15. Am J Med Genet 1996;62(4):345-7.

    Romie SS, Hartsfield JK, Jr., Sutcliffe MJ, Dumont DP, Kousseff BG. Monosomy 6q1: syndrome delineation. Am J Med Genet 1996;62(2):105-8.

    Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. New insights into the phenotypes of 6q deletions. Am J Med Genet 1997;70(4):377-86.

    Kumar R, Riordan D, Dawson AJ, Chudley AE. Proximal interstitial 6q deletion: a recognizable syndrome. Am J Med Genet 1997;71(3):353-6.

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