PMID- 20162869
OWN - NLM
STAT- MEDLINE
DCOM- 20100318
LR  - 20100218
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 20
IP  - 4
DP  - 2009
TI  - Two cases of 9p deletion syndrome and a case of partial trisomy 8 and partial 
      monosomy 9p.
PG  - 341-7
AB  - Two cases of 9p deletion syndrome anda case of partial trisomy 8 and partial 
      monosomy 9p: We report 3 girls with mental retardation (MR), distinctive 
      malformations of the skull and facial region, including trigonocephaly, small 
      palpebral fissures, and unusually midface hypoplasia, congenital heart defects 
      which are characteristics of monosomy 9p. We performed GTG banding and 
      fluorescence in situ hybridization (FISH) method in all cases. By using 
      cytogenetic methods, three terminal deletions of the short arm of the chromosome 
      9 were identified and in 2 patients the deletion was de novo, and one patient 
      inherited deletion. FISH analysis showed 46,XX,del(9)(pter-p22).ish 
      del(9)(pter-->p22) in two patients and 46,XX,-9,+der(9)t(8;9)(q24.3;p22)pat.ish 
      der(9)t(8;9)(q24.3;p22)pat (305J7-T7x1,wcp8+,wcp9+) in the third patient. This 
      report compares the symptoms and features of our patients with previously 
      reported patients with a 9p deletion syndrome.
FAU - Okten, G
AU  - Okten G
AD  - Ondokuz Mayis University, Faculty of Medicine, Department of Medical Biology, 
      Medical Genetics Section, Samsun, Turkey.
FAU - Sezer, O
AU  - Sezer O
FAU - Gunes, S
AU  - Gunes S
FAU - Kucukoduk, S
AU  - Kucukoduk S
FAU - Ogur, G
AU  - Ogur G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosome Disorders/*genetics
MH  - Chromosomes, Human, Pair 8
MH  - *Chromosomes, Human, Pair 9
MH  - Female
MH  - Genetic Counseling
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Syndrome
MH  - Trisomy
EDAT- 2010/02/19 06:00
MHDA- 2010/03/20 06:00
CRDT- 2010/02/19 06:00
PHST- 2010/02/19 06:00 [entrez]
PHST- 2010/02/19 06:00 [pubmed]
PHST- 2010/03/20 06:00 [medline]
PST - ppublish
SO  - Genet Couns. 2009;20(4):341-7.