PMID- 16222686
OWN - NLM
STAT- MEDLINE
DCOM- 20060510
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 139
IP  - 1
DP  - 2005 Nov 15
TI  - Detection of cryptic chromosome aberrations in a patient with a balanced 
      t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.
PG  - 32-6
AB  - Mental retardation (MR) is one of the most common phenotypes in congenital 
      disorders, but in many cases the pathogenesis remains unknown. Here, we report on 
      a 5-year-old boy with mild developmental disability, cranial malformation, minor 
      anomalies, and moderate MR. G-banded chromosome analysis revealed that he carried 
      an apparent balanced translocation, t(1;9)(p34.2;p24). However, our array-based 
      comparative genomic hybridization (CGH-array) analysis detected a cryptic genomic 
      duplication and a deletion at the breakpoints. Further fluorescence in situ 
      hybridization (FISH) showed that the duplication was approximately 7.9 Mb in size 
      at 1p34.3-p33, and the deletion was 4 Mb at 9pter-p24. Although some features of 
      the patient were consistent with those of monosomy 9p-syndrome, his features were 
      not typical of cases of the syndrome, suggesting that the small deletion region 
      involved in 9p may limit his phenotype. On the other hand, interstitial 
      duplication at 1p34.3-p33 is very rare and his phenotype did not match with that 
      in previous reports. CGH-array is a potentially useful technique for 
      investigating cryptic copy-number alterations in cases of apparently balanced 
      chromosome rearrangements in patients with unexpected clinical features.
FAU - Hayashi, Shin
AU  - Hayashi S
AD  - Department of Molecular Cytogenetics, Medical Research Institute and School of 
      Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan.
FAU - Kurosawa, Kenji
AU  - Kurosawa K
FAU - Imoto, Issei
AU  - Imoto I
FAU - Mizutani, Shuki
AU  - Mizutani S
FAU - Inazawa, Johji
AU  - Inazawa J
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Bacterial
MH  - *Chromosomes, Human, Pair 1
MH  - *Chromosomes, Human, Pair 9
MH  - Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Male
MH  - Nucleic Acid Hybridization/methods
MH  - Oligonucleotide Array Sequence Analysis
MH  - *Translocation, Genetic
EDAT- 2005/10/14 09:00
MHDA- 2006/05/11 09:00
CRDT- 2005/10/14 09:00
PHST- 2005/10/14 09:00 [pubmed]
PHST- 2006/05/11 09:00 [medline]
PHST- 2005/10/14 09:00 [entrez]
AID - 10.1002/ajmg.a.30982 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Nov 15;139(1):32-6. doi: 10.1002/ajmg.a.30982.