PMID- 16317302
OWN - NLM
STAT- MEDLINE
DCOM- 20060510
LR  - 20211003
IS  - 0962-8827 (Print)
IS  - 0962-8827 (Linking)
VI  - 15
IP  - 1
DP  - 2006 Jan
TI  - Duplication of distal 20q: clinical, cytogenetic and array CGH. Characterization 
      of a new case.
PG  - 19-23
LID - 10.1097/01.mcd.0000184969.84280.e1 [doi]
AB  - Trisomy of the long arm of chromosome 20 is rare. We describe an 18-month-old 
      male who was born at 36 weeks via Caesarian section after an uneventful 
      pregnancy. During the newborn period he was found to have a right-sided cleft lip 
      and cleft palate, hypertelorism, strabismus and mildly over-folded ears with 
      cupping. Cardiovascular examination was consistent with the diagnosis of severe 
      aortic coarctation, which was confirmed by echocardiogram. Additionally, 
      hypothyroidism was diagnosed. Neurological evaluation at 18 months revealed a 
      hypotonic infant with delayed acquisition of motor milestones. Cytogenetic 
      analysis showed additional material on the long arm of chromosome 20, confirmed 
      by fluorescence in situ hybridization (FISH) analysis as being of chromosome 20 
      origin. Because of the indistinct GTG-banding pattern it was not possible to 
      distinguish between a proximal [dup(20)(q11.2q13.1)] or distal duplication 
      [dup(20)(q13.1q13.3)]. To further define the duplication we used array 
      comparative genomic hybridization (CGH) which demonstrated a 7.8 Mb interstitial 
      duplication in distal 20q. Thus, the proband's karyotype was interpreted as 
      46,XY,dup(20)(q13.2q13.2). The proband is the first reported case of a pure 
      duplication of this region. This case further highlights the utility of array CGH 
      in characterizing aneusomies and, in particular, for accurate breakpoint 
      designation and quantitation of ambiguous rearrangements.
FAU - Iglesias, Alejandro
AU  - Iglesias A
AD  - Division of Genetics, Department of Pediatrics, Beth Israel Medical Center, New 
      York, USA Division of Medical Genetics, Department of Pediatrics, Division of 
      Medical Genetics, University of California, San Francisco, USA Comprehensive 
      Cancer Center, University of California, San Francisco, USA Department of 
      Laboratory Medicine, University of California, San Francisco, USA Department of 
      Pathology, Children's Hospital and Research Center, Oakland, USA.
FAU - Rauen, Katherine A
AU  - Rauen KA
FAU - Albertson, Donna G
AU  - Albertson DG
FAU - Pinkel, Daniel
AU  - Pinkel D
FAU - Cotter, Philip D
AU  - Cotter PD
LA  - eng
GR  - CA83040/CA/NCI NIH HHS/United States
GR  - CA84118/CA/NCI NIH HHS/United States
GR  - HD048502/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PL  - England
TA  - Clin Dysmorphol
JT  - Clinical dysmorphology
JID - 9207893
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - *Chromosome Aberrations
MH  - Chromosome Banding/methods
MH  - Chromosomes, Human, Pair 20/*genetics
MH  - Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant
MH  - Male
EDAT- 2005/12/01 09:00
MHDA- 2006/05/11 09:00
CRDT- 2005/12/01 09:00
PHST- 2005/12/01 09:00 [pubmed]
PHST- 2006/05/11 09:00 [medline]
PHST- 2005/12/01 09:00 [entrez]
AID - 00019605-200601000-00004 [pii]
AID - 10.1097/01.mcd.0000184969.84280.e1 [doi]
PST - ppublish
SO  - Clin Dysmorphol. 2006 Jan;15(1):19-23. doi: 10.1097/01.mcd.0000184969.84280.e1.