PMID- 8494036
OWN - NLM
STAT- MEDLINE
DCOM- 19930617
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 46
IP  - 1
DP  - 1993 Apr 1
TI  - Identification, counselling, and outcome of two cases of prenatally diagnosed 
      supernumerary small ring chromosomes.
PG  - 88-94
AB  - De novo supernumerary small ring chromosomes have mainly been reported in 
      pediatric patients with clinical abnormalities, thus, there may be bias of 
      ascertainment. Reports on prenatally diagnosed cases with postnatal follow-up are 
      rare. With the availability of chromosome specific alpha-satellite centromeric 
      probes, the interest in these previously unidentifiable supernumerary small ring 
      chromosomes has been rekindled [Callen et al.: J Med Genet 27: 155-159, 1990; 
      Callen et al.: Am J Hum Genet 48:769-782, 1991; Callen et al.: Am J Med Genet 
      43:709-715, 1992]. We report on 2 prenatal diagnosis cases, where a ring was 
      noted in 25 and 60% of the amniocytes, respectively. The initial G- and C-banding 
      in Case 1 allowed an assumption of a chromosome 1 origin of the extra chromosome. 
      This was confirmed by fluorescence in situ hybridization (FISH) studies using the 
      appropriate probes. No similar initial assumption could be made in Case 2; thus, 
      random trials with multiple probes were performed. A chromosome 19 origin in Case 
      2 was eventually concluded. The large amount of C-band positive material on the 
      extra chromosome and the normal level 2 fetal ultrasound examination suggested a 
      favorable outcome in both cases, but the possibility of mental retardation could 
      not be ruled out. An empiric risk figure with regard to prenatally diagnosed de 
      novo supernumerary small ring chromosomes is not available. Although the decision 
      making processes of the parents were different, they both decided to continue the 
      pregnancy. At age 9 months and 1 1/2 years both children, a girl and a boy, 
      showed normal growth and development.
FAU - Michalski, K
AU  - Michalski K
AD  - Department of Medical Genetics, Rockford Memorial Hospital, Illinois.
FAU - Rauer, M
AU  - Rauer M
FAU - Williamson, N
AU  - Williamson N
FAU - Perszyk, A
AU  - Perszyk A
FAU - Hoo, J J
AU  - Hoo JJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 19
MH  - DNA Probes
MH  - Female
MH  - Follow-Up Studies
MH  - *Genetic Counseling
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - *Pregnancy Outcome
MH  - *Ring Chromosomes
MH  - Ultrasonography, Prenatal
EDAT- 1993/04/01 00:00
MHDA- 1993/04/01 00:01
CRDT- 1993/04/01 00:00
PHST- 1993/04/01 00:00 [pubmed]
PHST- 1993/04/01 00:01 [medline]
PHST- 1993/04/01 00:00 [entrez]
AID - 10.1002/ajmg.1320460115 [doi]
PST - ppublish
SO  - Am J Med Genet. 1993 Apr 1;46(1):88-94. doi: 10.1002/ajmg.1320460115.