PMID- 11807861
OWN - NLM
STAT- MEDLINE
DCOM- 20020306
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 107
IP  - 1
DP  - 2002 Jan 1
TI  - Molecular characterization of a ring chromosome 16 from a patient with bilateral 
      cataracts.
PG  - 12-7
AB  - A four-month-old white female, who was referred to us for genetic evaluation 
      because of severe developmental delay, dysmorphic features, and bilateral 
      cataracts, was found by routine cytogenetic analysis to have ring chromosome 16 
      in almost all cells analyzed. Ring chromosome 16 was confirmed and further 
      delineated by fluorescence in situ hybridization (FISH). Breakpoints between loci 
      D16S521 and KG8 on the short arm and D16S3121 and D16S303 on the long arm of 
      chromosome 16 were determined by polymerase chain reaction (PCR) analysis. The 
      deleted chromosome was of maternal origin. To our knowledge, this is the first 
      case of ring chromosome 16 associated with bilateral cataracts. Comparison of 
      previously reported cases with deletion of chromosome 16 and our case suggests 
      the presence of cataract locus within 1 Mb of the terminus of 16q.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - He, Weigong
AU  - He W
AD  - Department of Medical Genetics, University of South Alabama, Mobile, Alabama, 
      USA.
FAU - Tuck-Muller, Cathy M
AU  - Tuck-Muller CM
FAU - Martinez, Jose E
AU  - Martinez JE
FAU - Li, Shibo
AU  - Li S
FAU - Rowley, Ewellonda R
AU  - Rowley ER
FAU - Wertelecki, Wladimir
AU  - Wertelecki W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Cataract/*genetics
MH  - *Chromosomes, Human, Pair 16
MH  - Cytogenetic Analysis
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant
MH  - *Ring Chromosomes
EDAT- 2002/01/25 10:00
MHDA- 2002/03/07 10:01
CRDT- 2002/01/25 10:00
PHST- 2002/01/25 10:00 [pubmed]
PHST- 2002/03/07 10:01 [medline]
PHST- 2002/01/25 10:00 [entrez]
AID - 10.1002/ajmg.10091 [pii]
AID - 10.1002/ajmg.10091 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Jan 1;107(1):12-7. doi: 10.1002/ajmg.10091.