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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.
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REFERENCES
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 | 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 | - | - | + | - | - | - |
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