PMID- 11484205
OWN - NLM
STAT- MEDLINE
DCOM- 20010913
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 102
IP  - 3
DP  - 2001 Aug 15
TI  - Molecular cytogenetic characterization of a derivative chromosome 8 with an 
      inverted duplication of 8p21.3-->p23.3 and a rearranged duplication of 
      8q24.13-->qter.
PG  - 266-71
AB  - A derivative chromosome 8 was observed in a newborn boy who presented with low 
      birth weight, multiple congenital anomalies, and dysmorphic face. The der(8) was 
      further characterized at age 18 months by a high resolution G-banding analysis, 
      spectral karyotyping, and fluorescence in situ hybridization (FISH) with multiple 
      DNA probes. The karyotype was described as 
      46,XY,der(8)(qter-->q24.13::p21.3-->p23.3::p23.3-->qter), representing an 
      inverted duplication of region 8p21.3-->p23.3 and a duplication of region 
      8q24.13-->qter, which attaches to the duplicated short arm segment at 8p21.3. 
      Different from previously reported patients with an inverted duplication (8p), no 
      deletion was detected in the distal region of 8p in this case. This young child 
      had manifested a broad nasal bridge, micrognathia, cleft lip, hydrocephalus, 
      partial agenesis of the corpus callosum, Dandy-Walker malformation, congenital 
      heart defects, dysplastic kidneys, hydronephrosis, marked hypotonia, and 
      significant psychomotor retardation. These features are compared with those 
      commonly seen in cases with an inverted duplication of 8p and cases with a 
      partial trisomy of 8q.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Fan, Y S
AU  - Fan YS
AD  - Department of Laboratory Medicine, London Health Sciences Centre, London, 
      Ontario, Canada. fany@lhsc.on.ca
FAU - Siu, V M
AU  - Siu VM
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
CIN - Am J Med Genet A. 2003 Aug 15;121A(1):79-81. PMID: 12900908
MH  - Abnormalities, Multiple/genetics/pathology
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Cytogenetic Analysis
MH  - Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
EDAT- 2001/08/03 10:00
MHDA- 2001/09/14 10:01
CRDT- 2001/08/03 10:00
PHST- 2001/08/03 10:00 [pubmed]
PHST- 2001/09/14 10:01 [medline]
PHST- 2001/08/03 10:00 [entrez]
AID - 10.1002/ajmg.1460 [pii]
AID - 10.1002/ajmg.1460 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Aug 15;102(3):266-71. doi: 10.1002/ajmg.1460.