PMID- 15326636
OWN - NLM
STAT- MEDLINE
DCOM- 20050318
LR  - 20221207
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 129A
IP  - 3
DP  - 2004 Sep 1
TI  - Transmission of ring chromosome 13 from a mother to daughter with both having a 
      46,XX, r(13)(p13q34) karyotype.
PG  - 316-20
AB  - Ring chromosomes are thought to be the result of breakage in both arms of a 
      chromosome, with fusion of the points of fracture and loss of the distal 
      fragments. Another mechanism of ring formation is believed to be the simple 
      fusion of chromosome ends with preservation of telomeric and subtelomeric 
      sequences. Ring chromosome 13 was first described in 1968 and its incidence 
      estimated at 1 in 58,000 live births. Severe phenotypes associated with large 
      deletions of 13q have been described as "ring chromosome 13 syndrome." Features 
      of the "ring chromosome 13 syndrome" include mental retardation (often severe), 
      growth retardation, microcephaly, facial dysmorphism, and hand, foot or toe 
      abnormalities. We report on a case of a mother and daughter with r(13) and mild 
      phenotypes. Our patient, IA, had chromosome analysis performed at about 4(1/2) 
      years of age due to some developmental delay. This revealed 46,XX, r(13)(p13q34) 
      karyotype with no loss of any chromosomal band. Her mother, EA, was subsequently 
      found to have the same ring 13. IA's maternal grandmother had a normal karyotype 
      while her maternal grandfather was unavailable for testing. Fluorescence in situ 
      hybridization (FISH) analysis showed loss of a specific subtelomeric 13q region 
      in r(13) in the mother. Clinically, IA had macular hyperpigmentation on the chin 
      and mild delay in speech and fine motor skills. EA, 22 years of age, had mild 
      short stature and borderline mental retardation. To our knowledge, this is the 
      first report of a case of familial transmission of r(13). We compare phenotypes 
      of our cases with those from other reported cases of r(13) and discuss the 
      possible mechanism of formation of this ring chromosome.
FAU - Bedoyan, Jirair K
AU  - Bedoyan JK
AD  - Department of Genetic and Metabolic Disorders, Children's Hospital of Michigan, 
      Detroit, Michigan 48201, USA.
FAU - Flore, Leigh Anne
AU  - Flore LA
FAU - Alkatib, Aziz
AU  - Alkatib A
FAU - Ebrahim, Salah A
AU  - Ebrahim SA
FAU - Bawle, Erawati V
AU  - Bawle EV
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  - Black or African American
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Disorders/*genetics
MH  - Chromosomes, Human, Pair 13/*genetics
MH  - Developmental Disabilities/genetics
MH  - Female
MH  - Humans
MH  - Hyperpigmentation/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pedigree
MH  - *Phenotype
MH  - *Ring Chromosomes
EDAT- 2004/08/25 05:00
MHDA- 2005/03/19 09:00
CRDT- 2004/08/25 05:00
PHST- 2004/08/25 05:00 [pubmed]
PHST- 2005/03/19 09:00 [medline]
PHST- 2004/08/25 05:00 [entrez]
AID - 10.1002/ajmg.a.30242 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Sep 1;129A(3):316-20. doi: 10.1002/ajmg.a.30242.