PMID- 12124737
OWN - NLM
STAT- MEDLINE
DCOM- 20030108
LR  - 20051116
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 111
IP  - 1
DP  - 2002 Jul 22
TI  - Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female 
      with multiple congenital anomalies.
PG  - 61-7
AB  - A newborn female presented with multiple congenital anomalies including facial 
      dysmorphism, agenesis of the corpus callosum, type I laryngeal cleft, tracheal 
      stenosis, bilaterally small kidneys, segmental vertebral anomalies, extranumerary 
      rib, bilateral hip dislocation, digital anomalies, and growth retardation. 
      Newborn aneuploidy detection (NAD) based on interphase fluorescence in situ 
      hybridization (FISH) indicated monosomy 13 in 47 of 200 (23.5%) peripheral blood 
      cells (normal cutoff 8.5% at 95% CI). The follow-up banded metaphase-based 
      analysis of 20 cells revealed a karyotype of 46,XX. The analysis of 30 additional 
      cells revealed one cell to have monosomy 13 and a small ring chromosome. In the 
      abnormal cell line, the ring was positive for whole chromosome paint (wcp) 13 and 
      negative for Rb1 (13q14.3). The ring was detected in 4% of 80 additional 
      metaphases studied by FISH. Therefore, the ring was present in 4% (5/130) of 
      metaphases from peripheral blood. Analysis of buccal cells by FISH indicated the 
      ring was present in 36% of cells. A higher degree of mosaicism (60%) was detected 
      in fibroblast cultures from a skin biopsy. The low-level mosaicism of ring 13 in 
      metaphase cells from peripheral blood would have been missed if the standard 20 
      GTL-banded metaphases had been analyzed. In this case, a preliminary interphase 
      FISH study had indicated monosomy 13 resulting from a large 13q deletion that 
      included the Rb1 locus. This finding initiated the analysis of additional 
      metaphases by GTL-banding and the analysis of metaphases and interphases by FISH. 
      The clinical presentation of our patient was consistent with reported cases of 
      13q deletions. In addition, our patient had airway anomalies, including a type I 
      laryngeal cleft and tracheal stenosis, which are previously unreported.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Lorentz, Cindy Pham
AU  - Lorentz CP
AD  - Cytogenetics Laboratory, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 
      55905, USA.
FAU - Jalal, Syed M
AU  - Jalal SM
FAU - Thompson, Dana M
AU  - Thompson DM
FAU - Babovic-Vuksanovic, Dusica
AU  - Babovic-Vuksanovic D
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Cells, Cultured/ultrastructure
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 13/chemistry/*ultrastructure
MH  - Female
MH  - Fibroblasts/pathology
MH  - Heart Defects, Congenital/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Low Birth Weight
MH  - Infant, Newborn
MH  - Interphase
MH  - Larynx/abnormalities
MH  - Limb Deformities, Congenital/genetics
MH  - Metaphase
MH  - Microcephaly/genetics
MH  - Mosaicism/*genetics
MH  - *Ring Chromosomes
MH  - Skin/pathology
MH  - Tracheal Stenosis/genetics
RF  - 15
EDAT- 2002/07/19 10:00
MHDA- 2003/01/09 04:00
CRDT- 2002/07/19 10:00
PHST- 2002/07/19 10:00 [pubmed]
PHST- 2003/01/09 04:00 [medline]
PHST- 2002/07/19 10:00 [entrez]
AID - 10.1002/ajmg.10457 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Jul 22;111(1):61-7. doi: 10.1002/ajmg.10457.