PMID- 8532620
OWN - NLM
STAT- MEDLINE
DCOM- 19960131
LR  - 20190905
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 15
IP  - 7
DP  - 1995 Jul
TI  - A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker 
      chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases 
      diagnosed in a series of 12,699 prenatal samples.
PG  - 615-9
AB  - A cytogenetic survey and follow-up studies were made of 14 cases with 
      supernumerary marker chromosomes, identified among 12,699 prenatal samples, 
      investigated at our institution over a 10-year period from 1980 to 1990. FISH 
      (fluorescence in situ hybridization) techniques were employed to identify the 
      chromosomal origin of the marker chromosomes. Five cases were familial, all 
      derived from acrocentric chromosomes, and all without apparent phenotypic effects 
      in the children. Nine cases represented de novo aberrations. In two cases (one 
      with a marker from chromosome 14 or 22, the other with a ring-like marker derived 
      from chromosome 17), the pregnancies continued and apparently normal babies were 
      delivered at term, but the child with a marker derived from chromosome 17 showed 
      slight psychomotor retardation at 2 years of age. All other pregnancies with de 
      novo markers were terminated. In three cases, significant abnormalities were 
      found at autopsy. One of these had an isochromosome 12p and the phenotype was 
      consistent with Pallister-Killian syndrome. In conclusion, marker chromosome 
      identification, as well as clinical follow-up, is essential for the purpose of 
      improving genetic counselling.
FAU - Brondum-Nielsen, K
AU  - Brondum-Nielsen K
AD  - Department of Medical Genetics, John F. Kennedy Institute, Glostrup, Denmark.
FAU - Mikkelsen, M
AU  - Mikkelsen M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Chromosome Aberrations/*diagnosis
MH  - Chromosome Disorders
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 17
MH  - Data Collection
MH  - Female
MH  - Follow-Up Studies
MH  - *Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*standards
MH  - Male
MH  - Phenotype
MH  - Pregnancy
MH  - *Pregnancy Outcome
MH  - *Prenatal Diagnosis
MH  - Psychomotor Disorders/diagnosis/etiology/genetics
EDAT- 1995/07/01 00:00
MHDA- 1995/07/01 00:01
CRDT- 1995/07/01 00:00
PHST- 1995/07/01 00:00 [pubmed]
PHST- 1995/07/01 00:01 [medline]
PHST- 1995/07/01 00:00 [entrez]
AID - 10.1002/pd.1970150705 [doi]
PST - ppublish
SO  - Prenat Diagn. 1995 Jul;15(7):615-9. doi: 10.1002/pd.1970150705.