Korean J Lab Med.  2010 Feb;30(1):84-88. 10.3343/kjlm.2010.30.1.84.

A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization

• Woo KS
• Kim JE
• Kim KE
• Kim MJ
• Yoo JH
• Ahn HS
• Shaffer LG
• Han JY

• KMID: 1096824
• DOI: http://doi.org/10.3343/kjlm.2010.30.1.84

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.

Keyword

Comparative Genomic Hybridization; Chromosomes; Human; Pair 6; Chromosome Deletion

MeSH Terms

Abnormalities, Multiple/*genetics
*Chromosome Deletion
*Chromosomes, Human, Pair 6
Comparative Genomic Hybridization/*methods
Female
Humans
Infant, Newborn
Karyotyping
Oligonucleotide Array Sequence Analysis

Figure

• 

  Fig. 1. The G-banded karyotype of the patient showing an interstitial deletion in the long arm of chromosome 6 (arrow).

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  Fig. 2. Partial karyotype and idiogram of the normal and deleted chromosome 6.

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  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.

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