PMID- 8313624
OWN - NLM
STAT- MEDLINE
DCOM- 19940324
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 44
IP  - 5
DP  - 1993 Nov
TI  - Application of fluorescence in situ hybridization for early prenatal diagnosis of 
      partial trisomy 6p/monosomy 6q due to a familial pericentric inversion.
PG  - 262-9
AB  - We report the prenatal diagnosis of a karyotype 46,XY,rec(6)dup p, inv(6) 
      (p23q27) mat detected by fluorescence in situ hybridization using chromosome 
      6pter and 6qter specific DNA markers. This partial duplication-deletion 
      (6p12-->pter; 6q27-->qter) emanated from a balanced pericentric inversion 46,XX 
      inv(6) (p23q27)pat present in the mother. The phenotypes of two relatives with 
      the same unbalanced anomaly are described. This report illustrates the 
      sensitivity and specificity of fluorescence in situ hybridization (FISH) and its 
      benefit in rapid and unequivocal prenatal diagnosis of subtle chromosomal 
      rearrangements.
FAU - Wauters, J G
AU  - Wauters JG
AD  - Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.
FAU - Bossuyt, P J
AU  - Bossuyt PJ
FAU - Roelen, L
AU  - Roelen L
FAU - van Roy, B
AU  - van Roy B
FAU - Dumon, J
AU  - Dumon J
LA  - eng
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/genetics
MH  - Abortion, Therapeutic
MH  - Chromosome Aberrations/diagnosis/genetics
MH  - Chromosome Disorders
MH  - *Chromosome Inversion
MH  - *Chromosomes, Human, Pair 6
MH  - Facial Bones/abnormalities
MH  - Female
MH  - Fetal Diseases/diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/genetics
MH  - Kidney/abnormalities
MH  - Male
MH  - *Monosomy
MH  - Mosaicism
MH  - Pedigree
MH  - Pregnancy
MH  - Pregnancy Trimester, First
MH  - Pregnancy Trimester, Second
MH  - Pregnancy in Diabetics
MH  - *Prenatal Diagnosis
MH  - Skull/abnormalities
MH  - *Trisomy
EDAT- 1993/11/01 00:00
MHDA- 1993/11/01 00:01
CRDT- 1993/11/01 00:00
PHST- 1993/11/01 00:00 [pubmed]
PHST- 1993/11/01 00:01 [medline]
PHST- 1993/11/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1993.tb03894.x [doi]
PST - ppublish
SO  - Clin Genet. 1993 Nov;44(5):262-9. doi: 10.1111/j.1399-0004.1993.tb03894.x.