PMID- 20503328
OWN - NLM
STAT- MEDLINE
DCOM- 20100830
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 152A
IP  - 6
DP  - 2010 Jun
TI  - Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 
      and cryptic 9q34 duplication and 15q21q25 deletion.
PG  - 1515-22
LID - 10.1002/ajmg.a.33302 [doi]
AB  - We report on a 2-year-old boy with intellectual disabilities, distinctive facies, 
      hypotonia, cardiac, and renal malformations. During his infancy he had recurrent 
      episodes of apnea, cyanosis, and bradycardia. Chromosomal analysis showed a de 
      novo apparently balanced translocation 46,XY,t(9;15)(q31;q26)dn. The use of 
      array-comparative genomic hybridization (CGH) however, revealed the presence of 
      additional cryptic complex chromosomal rearrangements involving a approximately 
      5-5.8 Mb distal duplication on chromosome 9 (9q34.1 --> 9q34.3), and deletions on 
      three separate regions of chromosome 15 adding to approximately 8.1-12.2 Mb 
      (15q21.2 --> 15q21.3, 15q22.31 --> 15q23, 15q25.1 --> 15q25.2). During 
      confirmation with fluorescence in situ hybridization (FISH) an inversion was 
      unexpectedly revealed on chromosome 15 (15q21.1 --> 15q21.2). To our knowledge 
      this is the first patient reported whose phenotype is due to partial trisomy 9q, 
      and complex interstitial deletions of 15q, not involving the 
      Prader-Willi/Angelman region and encompassing the critical region 15q21q25. We 
      provide correlation between the clinical findings of our patient and the 
      phenotype of the 9q34 duplication syndrome, the 15q21, and the 15q25 deletion 
      syndromes.
CI  - (c) 2010 Wiley-Liss, Inc.
FAU - Papadopoulou, Eleftheria
AU  - Papadopoulou E
AD  - Department of Pediatrics, University Hospital of Heraklion, Crete, Greece. 
      ritsapap@yahoo.com
FAU - Sismani, Carolina
AU  - Sismani C
FAU - Christodoulou, Christodoulos
AU  - Christodoulou C
FAU - Ioannides, Marios
AU  - Ioannides M
FAU - Kalmanti, Maria
AU  - Kalmanti M
FAU - Patsalis, Philippos
AU  - Patsalis P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/genetics
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Comparative Genomic Hybridization
MH  - Facies
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*diagnosis/genetics
MH  - Male
MH  - Phenotype
MH  - Psychomotor Disorders/*diagnosis/genetics
MH  - Syndrome
MH  - *Translocation, Genetic
EDAT- 2010/05/27 06:00
MHDA- 2010/08/31 06:00
CRDT- 2010/05/27 06:00
PHST- 2010/05/27 06:00 [entrez]
PHST- 2010/05/27 06:00 [pubmed]
PHST- 2010/08/31 06:00 [medline]
AID - 10.1002/ajmg.a.33302 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2010 Jun;152A(6):1515-22. doi: 10.1002/ajmg.a.33302.