PMID- 10422810
OWN - NLM
STAT- MEDLINE
DCOM- 19990824
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 55
IP  - 5
DP  - 1999 May
TI  - Partial trisomy 17p detected by spectral karyotyping.
PG  - 372-5
AB  - We report the case of a child with partial trisomy of the short arm of chromosome 
      17, which was characterized by 24-color spectral karyotyping (SKY) and other 
      fluorescence in situ hybridization (FISH) methods. The child had phenotypic 
      features previously associated with trisomy 17p, including facial 
      characteristics, developmental delay, postnatal growth retardation, single 
      transverse crease, inguinal hernia, redundant neck skin folds, congenital heart 
      defect, and club foot. This case illustrates the power of SKY for characterizing 
      derivative/marker chromosomes in patients with rare cytogenetic syndromes.
FAU - Morelli, S H
AU  - Morelli SH
AD  - Department of Pediatrics, University of Utah, Salt Lake City 84132, USA.
FAU - Deubler, D A
AU  - Deubler DA
FAU - Brothman, L J
AU  - Brothman LJ
FAU - Carey, J C
AU  - Carey JC
FAU - Brothman, A R
AU  - Brothman AR
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 17
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - *Trisomy
EDAT- 1999/07/28 00:00
MHDA- 1999/07/28 00:01
CRDT- 1999/07/28 00:00
PHST- 1999/07/28 00:00 [pubmed]
PHST- 1999/07/28 00:01 [medline]
PHST- 1999/07/28 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.550513.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 May;55(5):372-5. doi: 10.1034/j.1399-0004.1999.550513.x.