PDF
ePub
Citation
Print
Abstract
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824-99,824,130), demonstrating higher resolution than the conventional cytogenetic findings, del(6)(q12q15). The clinical data were analyzed and compared with those of similar patients previously reported in the literature.
REFERENCES
1.Chae KY., Nam YH. Deletion of the long arm of chromosome 6 associated with arachnoid cyst and brain atropy. J Korean Child Neurol Soc. 1999. 7:250–6.
2.Hopkin RJ., Schorry E., Bofinger M., Milatovich A., Stern HJ., Jayne C, et al. New insights into the phenotypes of 6q deletions. Am J Med Genet. 1997. 70:377–86.
3.Mikkelsen M., Dyggve H. (6;15) Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members. Hum Genet. 1973. 18:195–202.
4.Klein OD., Cotter PD., Moore MW., Zanko A., Gilats M., Epstein CJ, et al. Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin Genet. 2007. 71:260–6.
5.Myers SM., Challman TD. Proximal 6q interstitial deletion without severe mental retardation. Genet Couns. 2005. 16:269–76.
6.McNeal RM., Skoglund RR., Francke U. Congenital anomalies including the VATER association in a patient with del(6)q deletion. J Pediatr. 1977. 91:957–60.
7.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. 20:21–9.
8.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. 25:467–71.
9.Slater HR., Robb A., Forsyth LA., Hamilton DA., Clark MC., Galloway CA. Interstitial deletion (6) (q11——q15) in an infant with congenital abnormalities. J Med Genet. 1988. 25:210–1.
10.Lonardo F., Colantuoni M., Festa B., Gentile G., Guerritore G., Perone L, et al. A malformed girl with a de novo proximal 6q deletion. Ann Genet. 1988. 31:57–9.
11.Turleau C., Demay G., Cabanis MO., Lenoir G., de Grouchy J. 6q1 monosomy: a distinctive syndrome. Clin Genet. 1988. 34:38–42.
12.Valtat C., Galliano D., Mettey R., Toutain A., Moraine C. Monosomy 6q: report on four new cases. Clin Genet. 1992. 41:159–66.
13.Gershoni-Baruch R., Mandel H., Bar EI H., Bar-Nizan N., Borochowitz Z., Dar H. Interstitial deletion (6)q13q15. Am J Med Genet. 1996. 62:345–7.
14.Romie SS., Hartsfield JK Jr., Sutcliffe MJ., Dumont DP., Kousseff BG. Monosomy 6q1: syndrome delineation. Am J Med Genet. 1996. 62:105–8.
15.Kumar R., Riordan D., Dawson AJ., Chudley AE. Proximal interstitial 6q deletion: a recognizable syndrome. Am J Med Genet. 1997. 71:353–6.
16.Warman ML., Tiller GE., Polumbo PA., Seldin MF., Rochelle JM., Knoll JH, et al. Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1). Genomics. 1993. 17:694–8.
17.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. 16:135–40.
18.Gershoni-Baruch R., Mandel H., Bar El H., Bar-Nizan N., Borochowitz Z., Dar H. Interstitial deletion (6)q13q15. Am J Med Genet. 1996. 62:345–7.
19.Duran-Gonzalez J., Gutierrez-Angulo M., Garcia-Cruz D., de la Luz Ayala M., Padilla M., Davalos IP. A de novo interstitial 6q deletion in a boy with a split hand malformation. J Appl Genet. 2007. 48:405–7.
20.Yu M., Obringer AC., Fowler MH., Hummel M., Wenger SL. Prenatal detection of deletion 6q13q15 in a complex karyotype. Prenat Diagn. 2005. 25:1084–7.
21.Schuster M., Lohscheller J., Kummer P., Eysholdt U., Rosanowski F. Severe sensory hearing loss in del(6q)-syndrome. Int J Pediatr Otorhinolaryngol. 2003. 67:1263–6.
22.Le Caignec C., Swillen A., Van Asche E., Fryns JP., Vermeesch JR. Interstitial 6q deletion: clinical and array CGH characterisation of a new patient. Eur J Med Genet. 2005. 48:339–45.
23.Hansson K., Szuhai K., Knijnenburg J., van Haeringen A., de Pater J. Interstitial deletion of 6q without phenotypic effect. Am J Med Genet A. 2007. 143A:1354–7.
24.Poliakov A., Cotrina M., Wilkinson DG. Diverse roles of eph receptors and ephrins in the regulation of cell migration and tissue assembly. Dev Cell. 2004. 7:465–80.
25.Posthumus M., September AV., O'Cuinneagain D., van der Merwe W., Schwellnus MP., Collins M. The association between the COL12A1 gene and anterior cruciate ligament ruptures. Br J Sports Med. 2009.
Fig. 1.
The G-banded karyotype of the patient showing an interstitial deletion in the long arm of chromosome 6 (arrow).
Fig. 3.
Results of the array CGH analysis of chromosome 6. The pink line represents the patient-to-control fluorescence intensity ratios; the dark blue line represents dye-reversed control-to-patient fluorescence ratios. Microarray analysis showed a single-copy loss of the long arm of chromosome 6 at bands q13 through q16.2, which is 26.4 Mb in size.
Table 1.
Comparison of clinical findings of proximal 6q deletion previously described in the literature and the patient presented here
| Major findings | McNeal et al., 1977 [6] | Young et al., 1985 [7] | Yamamoto et al., 1986 [8] | Slater et al., 1988 [9] | Lonardo et al., 1988 [10] | Turleau et al., 1988 [11] |
|---|---|---|---|---|---|---|
| Break points | q13 q15 | q13 q15 | q13 q15 | q11 q15 | q13 q15 | q14 q16.2 |
| Facial dysmorphism | +∗ | + | + | + | + | + |
| Brain anomalies | + | + | + | -† | - | + |
| Scoliosis | + | + | + | - | - | - |
| Long slender finger | - | - | - | + | - | - |
| Clinodactyly | + | - | - | - | + | + |
| Single palmar crease | + | + | - | - | + | - |
| Umbilical hernia | + | - | + | + | + | + |
| Inguinal hernia | - | + | - | - | - | - |
| Pes planus | + | - | + | + | - | - |
| Hypotonia | + | + | - | + | - | - |
| Hypermobile joints including dislocated hip | + | + | + | + | + | - |
| Cardiac defect | + | - | + | - | + | - |
| Genital anomalies | - | - | - | + | + | - |
| Renal anomalies | + | - | - | - | - | - |
| Valtat et al., 1992 [12] | Gershoni-Baruch et al., 1996 [13] | Romie et al., 1996 [14] | Kumar et al., 1997 [15] | Presented patient | ||
| Case 1 | Case 2 | |||||
| Break points | q14 q16 | q14 q16 | q13 q15 | q11 q15 | q13 q14.2 | q13q16.2 |
| Facial dysmorphism | + | + | + | + | + | + |
| Brain anomalies | - | - | - | + | + | + |
| Scoliosis | - | - | - | - | + | - |
| Long slender finger | - | - | - | - | + | - |
| Clinodactyly | - | - | - | - | + | - |
| Single palmar crease | - | - | + | - | + | - |
| Umbilical hernia | - | - | + | + | + | + |
| Inguinal hernia | - | - | - | - | - | - |
| Pes planus | - | - | - | - | + | - |
| Hypotonia | - | + | + | + | + | - |
| Hypermobilen joints including dislocated hip | - | - | + | - | + | + |
| Cardiac defect | - | - | - | - | + | - |
| Genital anomalies | - | - | + | - | + | - |
| Renal anomalies | - | - | + | - | - | - |
XML Download