Abstract
We report six cases in two families and a sporadic case with a direct duplication of region 8p21.3→23.1. In one family, the duplication started in the mother and was transmitted to one son and one daughter. In the second family, the father was mosaic for the anomaly that was transmitted to his two daughters. The cytogenetic anomaly was initially described as an 8p+ with banding analysis and then delineated with fluorescence in situ hybridization (FISH) using whole-chromosome 8 painting, 8p specific painting, and 8p or 8p/8q subtelomeric probes. Deletion was not detected in the subtelomeric region of the abnormal chromosome 8 examined in one family and in the sporadic case. The phenotypic picture varies from normal to moderate mental retardation in the affected individuals. No consistent minor anomalies or congenital defects were observed among these cases. After comparing the chromosome region involved in our cases with those in others having direct or inverted duplications of 8p, it is thought that the segment 8p21.1→21.3 might be the critical region for an 8p duplication syndrome. The parental origin of the duplication does not seem to impact its clinical significance.
| Original language | English |
|---|---|
| Pages (from-to) | 231-234 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 103 |
| Issue number | 3 |
| DOIs | |
| State | Published - Oct 15 2001 |
| Externally published | Yes |
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Keywords
- Chromosome 8
- Chromosome abnormality
- Developmental delay
- Direct duplication of 8p
- FISH
- Mental retardation
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Direct duplication of 8p21.3→p23.1 : A cytogenetic anomaly associated with developmental delay without consistent clinical features. / Fan, Yao-Shan; Siu, Victoria M.; Jung, Jack H.; Farrell, S. A.; Côté, Gilbert B.
In: American Journal of Medical Genetics, Vol. 103, No. 3, 15.10.2001, p. 231-234.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Direct duplication of 8p21.3→p23.1
T2 - A cytogenetic anomaly associated with developmental delay without consistent clinical features
AU - Fan, Yao-Shan
AU - Siu, Victoria M.
AU - Jung, Jack H.
AU - Farrell, S. A.
AU - Côté, Gilbert B.
PY - 2001/10/15
Y1 - 2001/10/15
N2 - We report six cases in two families and a sporadic case with a direct duplication of region 8p21.3→23.1. In one family, the duplication started in the mother and was transmitted to one son and one daughter. In the second family, the father was mosaic for the anomaly that was transmitted to his two daughters. The cytogenetic anomaly was initially described as an 8p+ with banding analysis and then delineated with fluorescence in situ hybridization (FISH) using whole-chromosome 8 painting, 8p specific painting, and 8p or 8p/8q subtelomeric probes. Deletion was not detected in the subtelomeric region of the abnormal chromosome 8 examined in one family and in the sporadic case. The phenotypic picture varies from normal to moderate mental retardation in the affected individuals. No consistent minor anomalies or congenital defects were observed among these cases. After comparing the chromosome region involved in our cases with those in others having direct or inverted duplications of 8p, it is thought that the segment 8p21.1→21.3 might be the critical region for an 8p duplication syndrome. The parental origin of the duplication does not seem to impact its clinical significance.
AB - We report six cases in two families and a sporadic case with a direct duplication of region 8p21.3→23.1. In one family, the duplication started in the mother and was transmitted to one son and one daughter. In the second family, the father was mosaic for the anomaly that was transmitted to his two daughters. The cytogenetic anomaly was initially described as an 8p+ with banding analysis and then delineated with fluorescence in situ hybridization (FISH) using whole-chromosome 8 painting, 8p specific painting, and 8p or 8p/8q subtelomeric probes. Deletion was not detected in the subtelomeric region of the abnormal chromosome 8 examined in one family and in the sporadic case. The phenotypic picture varies from normal to moderate mental retardation in the affected individuals. No consistent minor anomalies or congenital defects were observed among these cases. After comparing the chromosome region involved in our cases with those in others having direct or inverted duplications of 8p, it is thought that the segment 8p21.1→21.3 might be the critical region for an 8p duplication syndrome. The parental origin of the duplication does not seem to impact its clinical significance.
KW - Chromosome 8
KW - Chromosome abnormality
KW - Developmental delay
KW - Direct duplication of 8p
KW - FISH
KW - Mental retardation
UR - http://www.scopus.com/inward/record.url?scp=0035888107&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035888107&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1534
DO - 10.1002/ajmg.1534
M3 - Article
C2 - 11745996
AN - SCOPUS:0035888107
VL - 103
SP - 231
EP - 234
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
SN - 1552-4825
IS - 3
ER -