PMID- 11745996
OWN - NLM
STAT- MEDLINE
DCOM- 20020214
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 103
IP  - 3
DP  - 2001 Oct 15
TI  - Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with 
      developmental delay without consistent clinical features.
PG  - 231-4
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.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Fan, Y S
AU  - Fan YS
AD  - Cytogenetics Division, London Health Sciences Centre and University of Western 
      Ontario, London, Ontario, Canada. fany@lhsc.on.ca
FAU - Siu, V M
AU  - Siu VM
FAU - Jung, J H
AU  - Jung JH
FAU - Farrell, S A
AU  - Farrell SA
FAU - Cote, G B
AU  - Cote GB
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - *Chromosome Aberrations
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Developmental Disabilities/*genetics
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Male
MH  - Mosaicism/genetics
MH  - Phenotype
MH  - Pregnancy
MH  - Prenatal Diagnosis
EDAT- 2001/12/18 10:00
MHDA- 2002/02/15 10:01
CRDT- 2001/12/18 10:00
PHST- 2001/12/18 10:00 [pubmed]
PHST- 2002/02/15 10:01 [medline]
PHST- 2001/12/18 10:00 [entrez]
AID - 10.1002/ajmg.1534 [pii]
AID - 10.1002/ajmg.1534.abs [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Oct 15;103(3):231-4. doi: 10.1002/ajmg.1534.abs.