PMID- 30474384
OWN - NLM
STAT- MEDLINE
DCOM- 20190429
LR  - 20190429
IS  - 0030-6002 (Print)
IS  - 0030-6002 (Linking)
VI  - 159
IP  - 47
DP  - 2018 Nov
TI  - [Trisomy 9p and clinical heterogeneity: case report of an unusual presentation].
PG  - 1994-2000
LID - 10.1556/650.2018.31223 [doi]
AB  - Whole or partial trisomy of the short arm of chromosome 9 (9p) is considered to 
      be one of the more frequent chromosome abnormalities compatible with life. The 
      duplication may affect various organs, however the most common symptoms are 
      certain specific facial dysmorphisms and abnormalities of the fingers, toes and 
      nails. A one month old boy presented with failure to thrive, jaundice, 
      ventricular septal defect (VSD) and dysmorphic face. He displayed symptoms of 
      heart failure. The cardiologic examination revealed a significant VSD, hypoplasia 
      of the aortic arch, pulmonary hypertension, decompensated circulatory failure and 
      moderate left ventricle dysfunction. Routine cytogenetic analysis revealed a 
      supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) 
      identified this as the short arm of chromosome 9. The child's karyotype was 
      determined as 47,XY,+der(9)dup(9)(p10p24)dn. Due to his worsening condition and 
      the high risk of the operation, it was decided to forego the procedure. After a 
      short palliative care the child passed away. The child's clinical presentation 
      and the uncharacteristic severity of his condition show that chromosome 
      abnormalities involving duplicated genetic material are extremely heterogeneous. 
      Thus treatment of each child should be individualized and may also involve 
      difficult ethical considerations. Orv Hetil. 2018; 159(47): 1994-2000.
FAU - Lengyel, Anna
AU  - Lengyel A
AD  - II. Gyermekgyogyaszati Klinika, Genetikai Reszleg, Semmelweis Egyetem, Altalanos 
      Orvostudomanyi Kar Budapest, Pf. 2., 1428.
FAU - Kosik, Anna
AU  - Kosik A
AD  - I. Gyermekgyogyaszati Klinika, Intenziv Terapias Osztaly, Semmelweis Egyetem, 
      Altalanos Orvostudomanyi Kar Budapest.
FAU - Pinti, Eva
AU  - Pinti E
AD  - II. Gyermekgyogyaszati Klinika, Genetikai Reszleg, Semmelweis Egyetem, Altalanos 
      Orvostudomanyi Kar Budapest, Pf. 2., 1428.
FAU - Lodi, Csaba
AU  - Lodi C
AD  - I. Gyermekgyogyaszati Klinika, Intenziv Terapias Osztaly, Semmelweis Egyetem, 
      Altalanos Orvostudomanyi Kar Budapest.
FAU - Tory, Kalman
AU  - Tory K
AD  - I. Gyermekgyogyaszati Klinika, MTA-SE Lendulet Nephrogenetikai Kutatocsoport, 
      Semmelweis Egyetem, Altalanos Orvostudomanyi Kar Budapest.
FAU - Fekete, Gyorgy
AU  - Fekete G
AD  - II. Gyermekgyogyaszati Klinika, Genetikai Reszleg, Semmelweis Egyetem, Altalanos 
      Orvostudomanyi Kar Budapest, Pf. 2., 1428.
FAU - Haltrich, Iren
AU  - Haltrich I
AD  - II. Gyermekgyogyaszati Klinika, Genetikai Reszleg, Semmelweis Egyetem, Altalanos 
      Orvostudomanyi Kar Budapest, Pf. 2., 1428.
LA  - hun
PT  - Case Reports
PT  - Journal Article
TT  - 9p triszomia es a klinikai sokszinuseg: egy varatlan megjelenesu eset 
      ismertetese.
PL  - Hungary
TA  - Orv Hetil
JT  - Orvosi hetilap
JID - 0376412
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/genetics
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - Syndrome
MH  - Trisomy/*diagnosis
OTO - NOTNLM
OT  - 9-es kromoszomatriszomia
OT  - chromosome 9 trisomy
OT  - citogenetika
OT  - congenital
OT  - cytogenetics
OT  - heart defects
OT  - szivfejlodesi rendellenesseg
EDAT- 2018/11/27 06:00
MHDA- 2019/04/30 06:00
CRDT- 2018/11/27 06:00
PHST- 2018/11/27 06:00 [entrez]
PHST- 2018/11/27 06:00 [pubmed]
PHST- 2019/04/30 06:00 [medline]
AID - 10.1556/650.2018.31223 [doi]
PST - ppublish
SO  - Orv Hetil. 2018 Nov;159(47):1994-2000. doi: 10.1556/650.2018.31223.