PMID- 17009345
OWN - NLM
STAT- MEDLINE
DCOM- 20070221
LR  - 20091119
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 26
IP  - 12
DP  - 2006 Dec
TI  - Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: 
      molecular cytogenetic studies and clinical significance.
PG  - 1142-50
AB  - OBJECTIVE: To evaluate the clinical significance of the supernumerary marker 
      chromosomes (SMCs) detected during prenatal diagnosis. METHODS: We 
      retrospectively studied cytogenetic/fluorescence in situ hybridization (FISH) 
      results and clinical evaluation of 110 marker cases identified from approximately 
      100,000 cases referred for prenatal diagnosis. The clinical follow-up performed 
      was focused on cases with de novo markers not derived from chromosome 15. 
      RESULTS: Among the 110 SMCs, 79 (71.8%) were de novo, 24 (21.8%) were familial, 
      and the origin was undetermined in 7 cases. Fifty-eight of the SMCs originated 
      from nonacrocentric chromosomes and 52 SMCs were derived from acrocentric 
      chromosomes, with 27 originating from chromosome 15. Twenty-two of the SMCs from 
      chromosome 15 did not contain the Prader-Willi/Angelman syndrome critical region, 
      and uniparental disomy was ruled out in 19/19 cases. Clinical information ranging 
      from birth to 4 years was obtained for 46 de novo cases with 
      nonchromosome-15-derived SMCs. Of these cases, 11/11 acrocentric SMCs resulted in 
      normal phenotype. In contrast, 4/23 cases with single nonacrocentric SMCs and 3/5 
      cases with two or more SMCs resulted in an abnormal phenotype. CONCLUSIONS: Our 
      data suggests an overall low risk for acrocentric SMCs and a higher risk for 
      nonacrocentric SMCs. Phenotypes associated with markers derived from some 
      specific chromosomes are also discussed.
CI  - 2006 John Wiley & Sons, Ltd.
FAU - Huang, Bing
AU  - Huang B
AD  - Genzyme Genetics, Orange, CA 92868, USA. bihuang@genzyme.com
FAU - Solomon, Sharon
AU  - Solomon S
FAU - Thangavelu, Maya
AU  - Thangavelu M
FAU - Peters, Katherine
AU  - Peters K
FAU - Bhatt, Sucheta
AU  - Bhatt S
LA  - eng
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Chromosome Disorders/diagnosis/*genetics
MH  - Chromosomes, Human/*genetics
MH  - Chromosomes, Human, Pair 15
MH  - Cytogenetic Analysis/*methods
MH  - Female
MH  - *Genetic Markers
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Retrospective Studies
EDAT- 2006/09/30 09:00
MHDA- 2007/02/22 09:00
CRDT- 2006/09/30 09:00
PHST- 2006/09/30 09:00 [pubmed]
PHST- 2007/02/22 09:00 [medline]
PHST- 2006/09/30 09:00 [entrez]
AID - 10.1002/pd.1575 [doi]
PST - ppublish
SO  - Prenat Diagn. 2006 Dec;26(12):1142-50. doi: 10.1002/pd.1575.