Isolated 6q terminal deletions: An emerging new syndrome
- 2 December 2005
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 140A (1), 74-81
- https://doi.org/10.1002/ajmg.a.31020
Abstract
Deletions of the distal part of the 6q chromosome have not been associated with a clearly distinctive and recognizable phenotype. In order to determine if a “6q terminal deletion syndrome” could be delineated, we compared the phenotype of two new cases with those patients reported in literature presenting with a similar deletion. Cases with more complex karyotypes were excluded. The deletion in our patients was accurately analyzed by loss of heterozygosity (LOH) and fluorescence in situ hybridization (FISH) with a panel of probes located around the putative breakpoint. Interestingly, the breakpoints were located in 6q26 in both our patients, distally to clone RP11‐150P20 and proximally to clone RP11‐152P19, with a deletion size of approximately 8 Mb. The breakpoints fall within the fragile site FRA6E. From a careful evaluation of the selected patients, a common phenotype emerged, including psychomotor retardation, hypotonia, seizures, short neck, and typical facial anomalies, along with nonspecific anomalies. While these features are shared by other chromosome syndromes and are not sufficient on their own for a clinical diagnosis, when considered together, the pattern can allow the identification of the “6q terminal deletion syndrome.” Moreover, the potential role of FRA6E in generating these deletions is suggested.Keywords
This publication has 17 references indexed in Scilit:
- 6q subtelomeric deletion: is there a recognizable syndrome?Clinical Dysmorphology, 2004
- Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the SyndromeAmerican Journal of Human Genetics, 2003
- Cerebral aqueductal stenosis as a presentation of deletion 6q25‐qterClinical Genetics, 1998
- New insights into the phenotypes of 6q deletionsAmerican Journal of Medical Genetics, 1997
- Deletion of the long arm of chromosome 6: two new patients and literature reviewClinical Genetics, 1996
- Monosomy 6q: report on four new casesClinical Genetics, 1992
- Chromosome 6q deletions: A report of two additional cases and a review of the literatureAmerican Journal of Medical Genetics, 1990
- Report of two cases of distal deletion of the long arm of chromosome 6American Journal of Medical Genetics, 1988
- Developmental abnormalities associated with long arm deletion of chromosome No. 6Clinical Genetics, 1978
- Replication pattern of the X chromosomes in three X/autosomal translocationsCytogenetic and Genome Research, 1977