PMID- 15508017
OWN - NLM
STAT- MEDLINE
DCOM- 20050705
LR  - 20220331
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 13
IP  - 2
DP  - 2005 Feb
TI  - Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal 
      age revisited.
PG  - 154-60
AB  - The details of all cytogenetic abnormalities diagnosed in the Wessex Regional 
      Genetics Laboratory (WRGL) since 1967 to the present day have been recorded in 
      the Salisbury Treasury of Interesting Chromosomes (STOIC). From this resource, we 
      identified 137 patients with constitutional autosomal supernumerary marker 
      chromosomes (SMC) ascertained in four principal groups: (i) 37% with abnormal 
      phenotypes; (ii) 7% couples with reproductive difficulties; (iii) 47% antenatal 
      diagnoses and (iv) 9% miscellaneous. Overall, 81 (59%) SMCs were mosaics and 56 
      (41%) nonmosaics. Of the 109 cases with known parental origins, 70% were de novo, 
      19% maternally and 11% paternally inherited. The chromosomal origins of 112/137 
      (82%) of the SMCs have been determined by fluorescence in situ hybridization 
      (FISH). In all, 36/112 (32%) were derived from nonacrocentric autosomes, and 
      76/112 (68%) from the acrocentric autosomes 13/21, 14, 15 and 22. Of these 
      acrocentric SMCs, 39 (51%) were derived from chromosome 15, so that SMC(15) 
      constituted 39/112 (35%) of all SMCs with known chromosomal origins. The 
      frequencies with which mosaicism was observed varied considerably according to 
      the chromosomal origin of the SMCs and accounted for 8/39 (20%) SMC(15), 13/37 
      (35%) SMCs from other acrocentrics and 25/36 (69%) of nonacrocentric SMCs. The 
      data were analysed for parental age effects, and only de novo SMC(15)s were found 
      to be associated with a significantly increased maternal age.
FAU - Crolla, John A
AU  - Crolla JA
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, 
      Wiltshire SP2 8BJ, UK. john.crolla@salisbury.nhs.uk
FAU - Youings, Sheila A
AU  - Youings SA
FAU - Ennis, Sarah
AU  - Ennis S
FAU - Jacobs, Patricia A
AU  - Jacobs PA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Chromosome Disorders/genetics
MH  - Chromosomes, Human/*genetics
MH  - Female
MH  - Genetic Markers/*genetics
MH  - Humans
MH  - Male
MH  - *Maternal Age
MH  - *Mosaicism
EDAT- 2004/10/28 09:00
MHDA- 2005/07/06 09:00
CRDT- 2004/10/28 09:00
PHST- 2004/10/28 09:00 [pubmed]
PHST- 2005/07/06 09:00 [medline]
PHST- 2004/10/28 09:00 [entrez]
AID - 5201311 [pii]
AID - 10.1038/sj.ejhg.5201311 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2005 Feb;13(2):154-60. doi: 10.1038/sj.ejhg.5201311.