PMID- 11562931
OWN - NLM
STAT- MEDLINE
DCOM- 20011004
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 103
IP  - 1
DP  - 2001 Sep 15
TI  - Mosaic trisomy of a small r(1) with an abnormal phenotype.
PG  - 32-5
AB  - Cytogenetic studies of a mildly dysmorphic 10-year-old male with mild 
      developmental delay and learning difficulties revealed mosaicism for a 
      supernumerary ring chromosome in approximately half of the cells. The karyotype 
      of this patient was established as 47,XY,+r[15]/46,XY[15].ish r(1)(D1Z7+,wcp1-). 
      Although the presence of euchromatic material was shown by C banding, the lack of 
      hybridization with the whole chromosome paint 1 (wcp1) probe suggests that few 
      unique sequences are contained in the ring and that these sequences likely 
      explain the child's dysmorphic features and developmental delay. A review of the 
      literature, including the present case, suggests that the significance of 
      euchromatin in supernumerary r(1) as determined by both C banding and 
      fluorescence in situ hybridization (FISH) with chromosome 1 painting probes can 
      be used as a prognostic indicator for potential severity of the clinical 
      phenotype.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Dawson, A J
AU  - Dawson AJ
AD  - Cytogenetics Laboratory, Health Sciences Centre, University of Manitoba, 
      Winnipeg, Manitoba, Canada. adawson@hsc.mb.ca
FAU - Konkin, D
AU  - Konkin D
FAU - Riordan, D
AU  - Riordan D
FAU - Chudley, A E
AU  - Chudley AE
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
CIN - Am J Med Genet. 2002 Jul 15;110(4):413; author reply 414. PMID: 12116223
MH  - Child
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Mosaicism
MH  - Phenotype
MH  - *Ring Chromosomes
MH  - *Trisomy
EDAT- 2001/09/20 10:00
MHDA- 2001/10/05 10:01
CRDT- 2001/09/20 10:00
PHST- 2001/09/20 10:00 [pubmed]
PHST- 2001/10/05 10:01 [medline]
PHST- 2001/09/20 10:00 [entrez]
AID - 10.1002/ajmg.1494 [pii]
AID - 10.1002/ajmg.1494 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Sep 15;103(1):32-5. doi: 10.1002/ajmg.1494.