PMID- 16059944
OWN - NLM
STAT- MEDLINE
DCOM- 20051017
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 137
IP  - 2
DP  - 2005 Aug 30
TI  - Characterization of a familial balanced rec(13) in a child with mild MR and his 
      half-sibling with two structurally rearranged chromosomes 13.
PG  - 217-21
AB  - In this report, we describe a 7-year-old child with mild mental retardation, 
      developmental delay, and learning disabilities. His karyotype contained a 
      rearrangement of chromosome 13, which appeared to include a duplication of 
      13q31-qter and a deletion of 13p12-pter regions. The chromosomal origin of the 
      additional material was confirmed by fluorescence in situ hybridization (FISH) 
      using a whole chromosome painting probe specific for chromosome 13. Family 
      studies showed that his mother carried a balanced inversion of chromosome 13 and 
      that his half-brother carried the balanced pericentric inversion of chromosome 13 
      from his mother as well as another structural rearrangement involving chromosome 
      13 presumably from his father. The findings from this study suggested that the 
      proband's abnormal 13 resulted from an unbalanced crossing-over between the 
      normal and maternal inverted chromosome 13.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - Mehra, S
AU  - Mehra S
AD  - Center for Human Genetics and Department of Genetics, Case Western Reserve 
      University and University Hospitals of Cleveland, Cleveland, Ohio, USA.
FAU - Christ, L
AU  - Christ L
FAU - Jeng, L
AU  - Jeng L
FAU - Zinn, A B
AU  - Zinn AB
FAU - Schwartz, S
AU  - Schwartz S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
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/pathology
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Developmental Disabilities/pathology
MH  - Family Health
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*pathology
MH  - Karyotyping
MH  - Learning Disabilities/pathology
MH  - Male
MH  - Siblings
RF  - 35
EDAT- 2005/08/02 09:00
MHDA- 2005/10/18 09:00
CRDT- 2005/08/02 09:00
PHST- 2005/08/02 09:00 [pubmed]
PHST- 2005/10/18 09:00 [medline]
PHST- 2005/08/02 09:00 [entrez]
AID - 10.1002/ajmg.a.30866 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Aug 30;137(2):217-21. doi: 10.1002/ajmg.a.30866.