PMID- 9557888
OWN - NLM
STAT- MEDLINE
DCOM- 19980803
LR  - 20111117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 77
IP  - 1
DP  - 1998 Apr 28
TI  - Characterization of a supernumerary marker derived from chromosome 17 by 
      microdissection in an adult with MR/MCA.
PG  - 19-22
AB  - We describe a 38-year-old adult who has a supernumerary marker chromosome in 40% 
      of metaphase cells which was identified by reverse in situ hybridization with a 
      DNA probe made by microdissection to be derived from chromosome 17. The 
      breakpoints are estimated by G-banding and fluorescence in situ hybridization 
      (FISH) to consist of the region from 17p11.1 to proximal 17q21. The propositus 
      displayed severe growth retardation, kyphoscoliosis, bilateral cataracts, severe 
      calcaneovalgus deformity of the feet, dysmorphic facies, profound mental 
      retardation, and multiple medical problems requiring ongoing medical management. 
      These problems included a mitral valve prolapse with regurgitation, recurrent 
      upper and lower respiratory tract infections, and severe respiratory 
      insufficiency. The relatively long survival of this patient enabled us to 
      describe the natural history of this rare chromosomal mutation.
FAU - Kozma, C
AU  - Kozma C
AD  - Georgetown University Medical Center, Washington, DC 20007-3935, USA.
FAU - Blancato, J
AU  - Blancato J
FAU - Meck, J
AU  - Meck J
FAU - Jiang, Y
AU  - Jiang Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
MH  - Microcephaly/*genetics
MH  - Scoliosis/genetics
MH  - Syndrome
MH  - *Trisomy
EDAT- 1998/04/29 06:37
MHDA- 2000/06/20 09:00
CRDT- 1998/04/29 06:37
PHST- 1998/04/29 06:37 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/04/29 06:37 [entrez]
AID - 10.1002/(SICI)1096-8628(19980428)77:1<19::AID-AJMG5>3.0.CO;2-G [pii]
PST - ppublish
SO  - Am J Med Genet. 1998 Apr 28;77(1):19-22.